1

6 AN OVERVIEW OF DATA INTEGRATION IN POPULATION GENETICS IN

7 THE ANTILLES ISLANDS.

8 Pedro C. Hidalgo

10

11

12

13

14

15 PDU: Diversidad Genética Humana.

16 Centro Universitario de Tacuarembó
17 Universidad de la República, Uruguay
18 E-mail: drpedro.hidalgo@gmail.com

19

20

21

22

23

24

1
25 ABSTRACT

26 Latin America in general, and in particular the Caribbean islands are a ideal material for
27 population genetics studies, due to the complex factors that influenced the contributions
28 of Amerindians, Europeans, and Africans to the gene pools of different populations. The
29 admixture studies have greatly contributed to understand the historical process in the
30 conformation of the present Antillean populations. The divergent genetic differences
31 present in the Antillean islands indicate to the different migratory process of Europeans,
32 Africans and Native Americans into Caribbean basin. Also in each of the Caribbean
33 islands have been produced microevolutionary, demographic, historical and social
34 processes that particularize each other.

35 RESUMEN

36 América Latina en general, y en particular las islas del Caribe son un material ideal para
37 estudios de genética de poblaciones, debido a los complejos factores que influyeron en
38 las contribuciones de los amerindios, europeos y africanos a los genofondos de
39 diferentes poblaciones. Los estudios de mezcla han contribuido en gran medida a
40 comprender el proceso histórico en la conformación de las actuales poblaciones
41 antillanas. Las diferencias genéticas divergentes presentes en las islas antillanas indican
42 diferentes procesos migratorios de los europeos, africanos y americanos nativos en la
43 cuenca del Caribe. También en cada una de las islas del Caribe se han producido
44 procesos microevolutivos, demográficos, históricos y sociales que particularizan a las
45 mismas entre sí.

46 RESUMO

47 A América Latina em geral, e particularmente as ilhas caribenhas, são um material ideal

48 para estudos de genética de populações devido aos fatores complexos que influenciaram
49 as contribuições de ameríndios, europeus e africanos nos pools gênicos das diferentes
50 populações. Os estudos de miscigenação contribuíram grandemente para o
51 entendimento dos processos históricosna formação das populações atuais das Antilhas.
52 As diferenças genéticas divergentes presentes nas Antilhas são um indicativo dos
53 diferentes processos migratórios de europeus, africanos e nativos americanos no Caribe.
54 Além disso, em cada uma das ilhas caribenhas ocorreram processos microevolutivos,
55 demográficos, históricos e sociais que particularizam cada uma.

2
56 The Caribbean extends from Cuba to the South American continent. This region
57 consists of thousands of islands, hundreds of which are inhabited. The Antilles are
58 divided into the larger Greater Antilles which bound the sea on the north and the Lesser
59 Antilles on the south and east (including the Leeward Antilles), and the Bahamas and
60 the Turks and Caicos Islands (Fig. 1), which are in fact in the Atlantic Ocean north of
61 Cuba (Rogozinski 1992 ). The countries of the Greater and Lesser Antilles are an
62 amalgam of different ethnic groups that are presented in different degrees of integration,
63 but far from presenting a homogeneous pattern and single. Each island of the Antilles
64 has its own genetic structure and physiognomy biological and cultural trends (Ribeiro
65 1969).
66 BACKGROUND

67 The significant geographic and historic characteristics of the microevolution and

68 genetic heterogeneity of the Antillean island populations can be summarized as follow:
69 1) the Antillean population stemmed from successive migratory waves which came
70 from Dark Africa, European, and the Caribbean basin; 2) the environmental condition
71 are not in general homogeneous, the geography and climatic conditions in the
72 Caribbean region varies among Caribbean islands; 3) the admixture among Europeans,
73 Africans, and Native Americans has taken place since colonial times.

74 The Caribbean Islands are well known for the heterogeneous distribution of three
75 main ancestral contributions from Native Americans, Europeans and Africans and the
76 geographic structuring of their population (Salzano and Bortolini 2002). These
77 populations met and mated among themselves in distinct ways, giving rise to a highly
78 actual multiethnic admixed population. The European and African colonization of the
79 island territories, previously occupied only by American Indians started on the coast
80 and gradually reached the interior. The progression of colonization was highly diverse
81 in different Caribbean regions as far as European; African and American Indian
82 parentages were concerned. This complex process is consequently reflected in the
83 variability in the genetic composition of the Caribbean populations.

84 COMPONENTS OF THE CARIBBEAN POPULATIONS

85 The early Natives were hunter-gatherer Paleo Indians who invaded the Caribbean
86 islands (Rivero de la Calle 1966; Tabio and Rey 1985). They possible came from the
87 mouth of the Orinoco River (Tabio and Rey 1985). Aboriginal communities of

3
88 fishermen and gatherers arrived in Cuba from South America more than 4,000 years ago
89 (Tabio and Rey 1985). The Antillean islands had been inhabited for more than 7,000
90 years, having been populated in several waves from South and Central America (Sued-
91 Badillo 2011).
92 The most recognized Antillean dispersal hypotheses is a direct jump by
93 agriculturalists from South America, followed by dispersal into the Lesser Antilles and
94 westward (Keegan 1995; Moreira de Lima 1999). The Caribbean was settled by several
95 waves of migrations of pre-ceramic and ceramic age settlers (Keegan 1995). The
96 prominent Amerindian ethnic groups before 1492 were the Siboneyes and Tainos
97 (Rivero de la Calle, 1966; Tabio y Rey 1985; Rouse 1992). The Siboneyes of Cuba and
98 Hispaniola were culturally different from each other. In just a century after the arrival of
99 the Europeans all the Siboneyes had been extinguished. The late pottery making
100 communities, commonly called Taino was the predominant aboriginal culture in the
101 Antillean islands (Tabio and Rey 1985; Rouse 1992). Most they disappeared as ethnic
102 group during the enslaving regime imposed by Spain Crown (Azcarate Rossel 1934).
103 According to Perez de la Riva (1973), the few Native Americans that survived through
104 the early period of the colonization gradually fused into the Spaniard peoples during the
105 first decades of the seventeenth century. In reality, the Indian will not completely
106 disappeared after the conquest, but that was grafted and gradually transculturated in the
107 first half of the XIX century (Reyes Cardero 2009).
108 Since the beginning of colonial times the immigration from Mexico, the Yucatan
109 Peninsula inhabitants (Yucatecan Mayas), have participated during several centuries in
110 the process of migration to the Antillean islands, principally to Cuba (Novelo 2012).
111 The Yucatecan Maya were, in most cases, taken by force to work as domestic servants
112 and in construction. In the XIX century they were sent as prisoners arrested during the
113 conflict known as the “cast war” in Yucatán and sold as slaves (Novelo 2012). The
114 continuity of Yucatecan and Mexican migrations over several centuries left a biological
115 impact present in the genetic background of the actual Cuban population (Alegre et al.
116 2007; .Ferrer et al. 2007). By Royal Decree of 21 July 1511 the king granted a license to
117 bring aboriginal of Lucayans to Cuba and Puerto Rico, under the pretext of the decline
118 of this population on the island (Saco 2006). It is clear that the process of continuous
119 admixing and gene flow of Native Americans from different Caribbean islands
120 contributed to the refinement of the actual genetic structure of the different populations.
121 But this same process indicates that there is not a direct continuity between the original

4
122 inhabitants of Antilles, and the actual populations of Cuba, Santo Domingo and Puerto
123 Rico.

124 In the Lesser Antilles an indigenous people known as the Caribs was present.
125 They may have descended from the Mainland Caribs (Kalina) of South America, but
126 they spoke an unrelated language known as Island Carib. Historically it was thought
127 their ancestors were mainland Caribs who conquered the islands from their previous
128 inhabitants, known as the Igneri. However, linguistic and archaeological evidence
129 disputes the notion of a mass emigration and conquest; Irving Rouse and others suggest
130 that a smaller group of mainland Caribs conquered the islands without displacing their
131 inhabitants, eventually adopting the local language but retaining their traditions of a
132 South American origin (Rouse 1992). Today, the Caribs and their descendents continue
133 to live in the Lesser Antilles; the Garifuna or Black Caribs, a group of mixed Carib and
134 African ancestry, also lives principally in Central America (Sweeney 2007).

135 The African component in the Caribbean populations starts with the forced
136 migration over several centuries (Franco 1961, 1976; Thomas 1997). According to some
137 authors it was in 1513 that the first Negro slaves arrived in Cuba (Saco 2006). Still King
138 Ferdinand of Aragon who gave the first permit for the entry of African slaves in large
139 numbers to work in the gold mines in the Hispaniola. King Joao III of Portugal was the
140 responsible for the innovation of the entry of black slaves directly from Africa to the
141 Americas in 1530. It is believed that it was not until the last third of the sixteenth
142 century that the slave trade between Spanish colonies in America and Africa was
143 structured and established on a regular basis (Aguirre Beltran 1946; Klein 1986;
144 Thomas 1997; Smallwood and Elliot 1998). The trans-Atlantic slave trade began in
145 1502 until 1888. During the period 1502-1620, most of the African slaves were
146 transported to the Spanish colonies in the Caribbean (Smallwood and Elliot 1998). They
147 would be followed by Portuguese and eventually the Dutch, French and English
148 (Smallwood and Elliot 1998). An estimated 9 million to 12 million African had been
149 taken from their homeland to become slaves in the Americas (Curtin 1969; Lovejoy
150 1982). The coastal Africa nations of Senegambia, Benin and Wolof profited and grew
151 by slave-gathering system from the interior regions of Africa and by establishing major
152 slave ports. Two other slaving nations that grew and prospered in West Africa were
153 Dahomey and Lagos (Ortiz 1916; Castellanos and Castellanos 1988). The English
154 were concentrated in the area of high Guinea. In fact many of the slaves captured in

5
155 other regions were sold in the mouths of the rivers Niger and Congo. The coast of
156 slaves, which was east of the Volta river from the Bight of Benin, was the area where
157 traffic became more intense, and where the native kings did not allow the European
158 would build neither strong nor garrison settlements (Thomas 1998). The cruelty of
159 slavery that starts in the heat of the catch, and cast their sinister shadow during the
160 march to the port of embarkation was one of dark aspect of the slave trade. Another
161 aspect was the regional distribution of the different ethnic groups, in the case of Cuba
162 the distribution of African slaves showed differences between ethnic groups in different
163 regions of the country, which was a feature of the slave trade (Lachatañere 1961). In a
164 study of ancient DNA of African slaves from the Caribbean island of Saint Martin
165 demonstrated the individual African ancestry, this remains were more closely related to
166 Yoruba and Bantu specific ancestries (Schroeder et al. 2015).

167 The Native American slave trade, mostly the Algonquians of coastal Virginia and
168 North Carolina, involve a number of British colonies including Jamaica, Barbados, St.
169 Kitts and Nevis. Many Native American groups began to assist and harbor runaway
170 African slaves and inbreeding with them (Katz 1986). The Black Caribs “Garifuna”
171 originated on St. Vincent Island, in the West Indies, as a cultural and biological
172 amalgam between Amerindians “Arawak and Island Caribs” and West Africans. A total
173 of 2,026 of the Black Caribs were deported by the British in 1797 to the Bay Islands,
174 from which they further migrated to Honduras, Central America (Crawford, 1986).

175 The Caribbean islands were colonies of four major Europeans empires until the
176 end of the 19th century. The French established control over Martinique and Guadalupe
177 (Lesser Antillean) and established after 1697 the seizure of the western half of
178 Hispaniola (Haiti) from Spain. The British and French gradually moved to dominate
179 nearly all Lesser Antillean. Jamaica was English dominate in 1655. In general these
180 colonies created the association of slavery with sugar cane production. Caribbean
181 islands developed as black and white societies and the African slaves was the great
182 majority of the population. In the French and English Antilles the European-African
183 ratio was 1:10 (Friedlander 1944). Since 1636 the Bonaire, Curaçao, and Aruba islands
184 have been under Dutch administration. Collectively, Aruba and the other Dutch islands
185 in the Caribbean are often called the Netherlands Antilles or the Dutch Caribbean
186 (Sullivan 2006).

6
187 The European population of Cuba and Puerto Rico was chiefly of Spanish origin
188 (Diaz Soler 1953; Guerra 1971; Le Riverend 1986). The first Spaniard immigrants
189 seem to have come mostly from the Canary Islands (Le Riverend 1986). The non-
190 Spanish whites were systematically excluded. However, and the end of the eighteen
191 century large groups of French from Haiti settled in the eastern part of Cuba (Guerra
192 1971). During the 19th and 20th centuries, there was a heavy Spanish immigration, in
193 the case of Cuba accounted for 56% of the total number of immigrants that came during
194 the first decades (Naranjo Orovio 1993). In Cuba and Puerto Rico, the composition of
195 the Spanish population was modified by the contribution of immigrants from different
196 regions of Spain who blended with each other and formed a population group called
197 “Criollos”.

198 The Spanish were not the only Europeans to take advantage of colonial expansion
199 in the Caribbean: the English, French, Dutch, and other Europeans followed. Most of
200 the European colonial countries were located on the west coast of Europe, which had a
201 seafaring heritage. The Caribbean Basin became an active region for European ships to
202 enter and vie for possession of each island. Many of the Caribbean islands changed
203 hands several times before finally being secured as established colonies.

204 The cultural traits of each of the European colonizers were injected into the fabric
205 of the islands they colonized; thus, the languages, religions, and economic activities of
206 the colonized islands reflected those of the European colonizers rather than those of the
207 native people who had inhabited the islands originally. The four main colonial powers
208 in the Caribbean were the Spanish, English, Dutch, and French. Other countries that
209 held possession of various islands at different times were Portugal, Sweden, and
210 Denmark. The United States became a colonial power when they gained Cuba and
211 Puerto Rico as a result of the Spanish-American War. The US Virgin Islands were
212 purchased from Denmark in 1918. Sweden controlled the island of St. Barthelemy from
213 1784 to 1878 before trading it back to the French, who had been the original colonizer.
214 Portugal originally colonized Barbados before abandoning it to the British. (Table 1)

215 Colonialism drastically altered the ethnic makeup of the Caribbean; Amerindians
216 were virtually depleted after the arrival of Africans, and Europeans. The current social
217 hierarchy of the Caribbean can be illustrated by social hierarchy in Mexico (Nutini and
218 Isaac 2009). Those of European descent are at the top of the pyramid and control a

7
219 higher percentage of the wealth and power even though they are a minority of the
220 population. In the Caribbean, the middle class includes mulattos, or people with both
221 African and European heritage, many of which include managers, business people, and
222 professionals. In some countries, such as Haiti, the minority mulatto segment of the
223 population makes up the power base and holds political and economic advantage over
224 the rest of the country while the working poor at the bottom of the pyramid make up
225 most of the population. In the Caribbean, the lower economic class contains the highest
226 percentage of people of African heritage (Chaves and Zambrano 2006). Another aspect
227 was that the Spanish and Portuguese emigrated without women in far greater numbers
228 than the English, who generally came with their families. The racial ideology of the
229 Spanish and Portuguese that while favoring European descent accepted mixing with
230 indigenous and African women, being common interracial sex (Esteva Fabregat 1988;
231 Nash 1989). Also in Spain and Portugal African slavery was something common to own
232 the seventeenth century (Phillips 1990).

233 Many slaves managed to escape from European oppression once on American
234 soil, a phenomenon known as marooning (cimarrones). In Dutch Guiana, these maroons
235 took refuge in the equatorial Amazonian forest, and reconstructed entire communities
236 known as the Noir Marron (or Bushinengué) (Price and Price, 2002).

237 Not only was colonialism the vehicle that brought many Africans to the Caribbean
238 through the slave trade, but it brought many people from Asia to the Caribbean as well.
239 Once slavery became illegal, the colonial powers brought indentured laborers to the
240 Caribbean from their Asian colonies. Cuba was the destination for over one hundred
241 thousand Chinese workers, so Havana can claim the first China town in the Western
242 Hemisphere (Meagher 2008). In Jamaica approximately 1,000 Chinese servants were
243 contract to work in plantations between 1838-1918 (Lai 1998).

244 Laborers from the British colonies of India and other parts of South Asia arrived
245 by ship in various British colonies in the Caribbean. At the present time, about 40
246 percent of the population of Trinidad can claim South Asian heritage and a large
247 number follow the Hindu faith.

248 The Spanish conquest of the islands of the Caribbean region constituted the first
249 stage in a process of conquest and colonization in the Americas that lasted more than
250 300 years, and whose effects remain readily apparent to the present day. The slave

8
251 society on Antillean islands also operated in a very rigid social hierarchy; Creole slaves
252 had much greater life expectancy, fecundity, and upward social mobility than those born
253 in Africa (Klein 1986). The entire society was also highly endogamous, the one glaring
254 omission being the high frequency in which white men fathered children with their
255 slaves, providing an opportunity for intergenerational mobility. Slaves born of mixed
256 parentage were more often the recipients of more favorable positions, including
257 domestics and tradesmen. Slaves of color were also much more likely to be manumitted
258 by their owners (Klein 1986; Castellano, and Castellanos. 1988).

259 Some islands are almost entirely populated by persons of African descent as
260 Jamaica and Haiti, while Cuba and Puerto Rico have a creolized white majority and the
261 majority of the Dominican Republic population is mulatto. Maroon communities, which
262 as noted earlier had evolved from runaway slaves maintaining distinct identities while
263 they proliferated throughout the Caribbean, now persist in only Suriname and Jamaica.
264 In the southern Caribbean, in Trinidad, and Suriname, there are substantial numbers of
265 persons of Asian descent from India. In Trinidad y Tobago descendants of Asian
266 Indians constitute about 44 percent in, and about 38 percent in Suriname. Descendants
267 of Javanese imported from Indonesia and living in distinct ethno cultural communities,
268 constitute about 15 percent of Suriname’s population. There are Hindus and Muslims as
269 well as Christians and Jews. The colors are spread out on as wide a spectrum as the
270 class formations. Income and color variations coexist within the same ethnic and racial
271 groups, spawning manifold identities.

272 THE STUDY OF ADMIXTURE PATTERNS IN THE ANTILLEAN ISLANDS.

273 The admixture studies have greatly contributed to understand the historical
274 process in the conformation of the present Antillean populations.

275 We show in the Table 2 the admixture average of European, African and Native
276 American contributions in some island populations. An important aspect of the above
277 studies is evidence of the presence of the Native American component in these
278 populations. The differences between the values of admixture may be the result of the
279 particular demographic, social, and economics processes that occurred in each of these
280 islands. In some studies the Native Americans contribution when considering the three-
281 parental population model indicates that the population should be considered as a hybrid
282 between Spanish and Africans (Cintado et al. 2009). In some islands the European

9
283 component is greater than the African; especially in the former Spanish colonies (Table
284 2). Blood genetic analyses reveal that the St. Vincent Black Caribs' gene pool contains
285 the highest proportion of Amerindian genes “approximately 50%”, while the coastal
286 communities exhibit a more African ancestry “up to 80%” (Crawford 1986). In
287 addition, admixture estimates for the Puerto Rican population reveal signals of gene
288 flow from mainland Africa 26% when JC virus strains were examined (Fernandez-Cobo
289 et al., 2001) and 27.2% based on mtDNA haplogroup data (Martinez-Cruzado et al.,
290 2005), but in contrast to Cuba, Native Americans serve as the major contributor to this
291 island’s maternal gene pool. In general in the Lesser Antillean islands the West African
292 admixture is greater than in the others islands, with a minimal European and Native
293 American ancestries (Table 2)

294 In the Table 3 are the frequencies of the mitochondrial DNA in some Caribbean
295 populations. In a study in Cuba about the geographical origin of the mitochondrial DNA
296 (mtDNA) haplogroups, 45% are of African origin, 33% of Native American origin and
297 22% are of West Eurasian origin (namely, Europe and the Middle East). In another
298 study about the analysis of mtDNA in Cuban population indicates that 34.5% of the
299 mtDNA have Native American ancestry, 38.8% African ancestry, and 26.7% Eurasian
300 ancestry (Marcheco-Teruel et al. 2014).These studies suggests an important contribution
301 of Native American and African to the sex bias in the Cuban population. In the
302 population of Puerto Rico the mtDNA maternal haplotypes in a sample of the
303 population was of 61.3% of Native American ancestry, 27.2% African ancestry, and
304 11.5% West Eurasian ancestry. Most Dominicans fall within three major continental
305 ethnic groups. Genetic studies in Dominicans of mtDNA, which assesses the DNA
306 inherited by female line, found that the Dominican Republic’s population racial
307 admixture is primarily European, and African, but there is also a noticeable Native
308 American element in the population. Based on mtDNA, approximately 15% of
309 Dominicans are descended in strict female line to Native American women. Another
310 15% have Eurasian component, whereas most of the Dominican population, 70%, have
311 mtDNA maternal side of African origin, meaning that the majority of the Dominican
312 population is descended from unions of European men with African women. The great
313 majority of the profiles observed in Jamaica could be allocated to L sub-Saharan
314 haplogroups (97.5%), a result consistent with previous studies showing very few non-
315 African maternal lineages in Jamaica. The mtDNA contributions to America slave trade

10
316 are very wide widely distributed throughout in the Dark African continent, most as
317 result largely of the Bantu dispersals (Salas et al. 2005)

318 In the Cuban samples studied there are excess of European Y chromosome
319 haplotypes (Marcheco-Teruel et al. 2014) Most of the haplotypes are of Eurasian
320 ancestry (81.8%), while 17.7% have African ancestry and only two haplotypes are of
321 Native American ancestry. In addition, was found several non-European Y
322 chromosomal haplotypes with most likely origins from North Africa and the Middle
323 East. In Haiti the Y chromosome (SNPs) predominant is the African (80.2%) and the
324 Native American is absent (Simms et al. 2012). In the Jamaican population
325 chromosome Y (SNPs) from African have a high frequency (78.6%), but European have
326 a relatively high frequency (19.3%) very similar to the Haiti value (Simms et al. 2012)
327 Comparisons of maternally-inherited mitochondrial DNA (mtDNA) and
328 paternally-inherited non-recombining Y chromosome (NRY) variation have provided
329 important insights into the impact of sex-biased processes (such as migration, residence
330 pattern, and so on) in the Antillean islands genetic variation. Particularly the Spanish
331 and Portuguese emigrated without women that while favoring European descent
332 accepted mixing with indigenous and African women, being common interracial sex
333 (Nash 1989). In the English-speaking Caribbean nearly 30% of the individuals
334 belonged to a European Y chromosome contribution to these populations, and a 72% of
335 African contribution (Benn-Torres et al. 2007a)

336 ABNORMAL HEMOGLOBINS AND G-6-PD DEFICIENCY

337 The existences of some alleles common in some specific populations are present
338 in the Antillean islands. The HBS, the HBC, and the G6PD deficiency, are related to the
339 existence of pathological conditions in Africa and the Mediterranean Europe
340 (Weatherall and Clegg 2001; Beutler 2008; Howes et al. 2013). These conditions are
341 present in the Caribbean admixed populations as consequence of the gene flow from
342 Africa and Europe waves of immigrations to the Caribbean. The distribution of HBS
343 and HBC in the Antillean islands shows a close relationship with the areas that receives
344 the greatest contribution of African slave trade (Arends 1971; Sáenz Renauld et al.
345 1993). Differences in ethnic composition and degree of admixture, as well as variations
346 in the selective pressure of malaria from region to region, are responsible for the
347 different frequencies of hemoglobins S and C in the Caribbean regions (Table 4).

11
348 Several studies analyzed the effects of HbS and HbC on the risk of severe malaria and,
349 in vitro, on potential mechanisms of protection. (Colombo et al. 1994; Fairhurst et al.
350 2003; Kreuels et al. 2010). Table 5 shows the ßS common haplotype frequency
351 distribution among some Caribbean Islands. The data indicated that the Benin and
352 Bantu haplotypes were the most prevalent; the Senegal haplotype was present in low
353 frequencies in all the samples. The presence of the three common African haplotypes is
354 in accordance with the historical records about the Caribbean pattern of slave trade
355 (Smallwood and Elliot 1998).

356 Glucose-6-phosphate dehydrogenase (G6PD) is a potentially pathogenic inherited

357 enzyme abnormality and, similar to other human red blood cell polymorphisms, is
358 particularly prevalent in historically malaria endemic countries. The spatial extent of
359 Plasmodium vivax malaria overlaps widely with that of G6PD deficiency; unfortunately
360 the only drug licensed for the radical cure and relapse prevention of P. vivax and for
361 blocking the transmission of P. falciparum, primaquine, can trigger severe hemolytic
362 anemia in G6PD deficient individuals. G6PD deficiency is found worldwide with
363 varying frequencies depending on the region and ethnic group (Motulsky 1965).
364 Mutations in the G6PD gene located on the X chromosome usually result in reduced
365 enzyme stability (and thus reduced activity in older erythrocytes) in all red cells in
366 hemizygous males and homozygous females. There is variable phenotypic expression in
367 heterozygous females depending on X-inactivation patterns (Cappellini and Fiorelli
368 2008). As with other sex-linked disorders, phenotypic screening of male subjects is the
369 preferred approach to assess G6PD deficiency prevalence and allelic frequency in the
370 population.
371 The present distribution of the African variant of G6PD deficiency have been
372 shown to have a relatively high frequency in the same Antillean islands as the HBB*S
373 and HBB*C genes (Arends 1971). These results agree with the African admixture
374 present in those islands. In those African countries (Nigeria and Ghana) which supplied
375 most of the slaves for Jamaica and other Caribbean regions (Patterson 1967) the G6PD
376 deficiency have a high prevalence.
377 G6PD deficiency distribution in the Antillean islands is shown in Table 6. From a
378 population genetics point of view, the prevalence of genes associated with G6PD
379 deficiency is maintained in the predominant African mixed population. To date, sixteen
380 G6PD mutations have been reported in Antillean islands (Monteiro et al. 2014).

12
381
382 THE CYSTIC FIBROSIS (CF) ΔF508 MUTATION IN THE ANTILLEAN
383 ISLANDS
384 There are significant differences between the rates of CF mutations in Antillean
385 islands (Arzimanoglou et al. 1995), but in all populations the most common mutation is
386 the ΔF508. The frequency of ΔF508 mutation is shown in Table 7. The different
387 frequencies of this mutation among Antillean populations are consequence of varying
388 ethnicities in each island. It is interesting the elevated frequency of the Dominican
389 Republic, with a presence of 92.0%, this high value may be a sample bias. In particular,
390 newly revealed genetic heterogeneity data could help explain the long observed, but
391 poorly understood concepts of variable expressivity and reduced penetrance.
392 Traditionally, their effects on phenotypic differences have been considered to be
393 relatively insignificant, particularly so for variable expressivity in the Cystic Fibrosis
394 disease.
395 CONCLUSION
396
397 A broadly defined Caribbean includes the Antilles – the Greater Antilles and the
398 Lesser Antilles – the Grenadines, the Windward Islands, the West Indies, and Bermuda
399 (though the latter is situated well into the Atlantic Ocean). Excluded here are the coast
400 of the Gulf of Mexico and Florida. Even in the Caribbean regions with larger European
401 settlements, such as Cuba and Puerto Rico, with the adoption of sugar as a monoculture
402 the number of African slaves increased dramatically and the number of European
403 indentured servants decreased equally, so that the Caribbean became truly Africanized.
404 European-American Mestizo in the Antillean islands are descendants of a
405 complex admixture between American Natives, Europeans (Iberian Spaniards and
406 others ethnic groups), and Africans with a complex history. Although a substructure
407 among these populations have been observed for several genetic markers, the
408 distributions of polymorphisms in genes according to the different regions of this
409 country have not been explored. In general, we must to distinguish between two
410 dynamic processes in hybridization: an external one, consisting of gene flow, and an
411 internal one, consisting of genotypical readjustment until equilibrium is reached. In the
412 Caribbean islands, both processes are strongly influenced by economical and social
413 factors.
414

13
415
416 REFERENCES
417
418 Aguirre Beltran 1946. La población negra de México 1519-1810. México, Ediciones
419 Fuente Cultural.
420 Alegre R., J. Moscoso, J. Martinez-Laso, M. Martinez-Villena, J. Suarez, A. Moreno,
421 J.I. Serrano-Vela, G. Vargas-Alarcon, R. Pacheco, and A. Aranaiz-Villena. 2007.
422 “HLA genes in Cubans and the detection of Amerindian alleles”. Molecular
423 Immunology 44:2426-2435.
424 Andrews, G.R. 2004. Afro-Latin America 1800-2000. New York, Oxford University
425 Press.
426 Arends, T. 1971. “Hemoglobinopathies and Enzyme Deficiency in Latin American
427 Populations”. In The Ongoing Evolution of Latin American Populations, ed. F.M.
428 Salzano, pp. 509-559. Springfield, Thomas.
429 Arzimanoglou, I., A. Tuchman, Z. Li, F. Gilbert, K. Valverde H. Zae, and L. Quittell.
430 1995.” Cystic Fibrosis Carrier Screening in Hispanics”. American Journal of
431 Human Genetics. 56:544-547.
432 Azcarate Rossel, R. 1934. Historia de los indios de Cuba. La Habana, Ed. Tropico
433 Benn-Torres, J., C. Bonilla, C.M. Robbins, L. Waterman, T.Y. Moses, W. Hernandez,
434 E.R. Santos, F. Bennet, W. Aiken, T. Tullock, K. Coard, A. Hennis, S. Wu, B.
435 Nemesure, M. C. Leske, V. Freeman, J. Carpten, and R. A. Kittles. 2007.
436 “Admixture and Population Stratification in African Caribbean Populations”.
437 Annals Human Genetics. 71:1-9.
438 Benn-Torres J., R.A. Kittles, and C. Stone. 2007a. Mitocondrial and Y Chromosome
439 Diversity in the English-Speaking Caribbean. Annals of Human Genetics. 71:782-
440 790.
441 Benn-Torres, J., A.C. Stone, and R. Kittles. 2013. An Anthropological Perspective on
442 Creolization in the Anglophone Caribbean”. American Journal of Physical
443 Anthropology. 151:135-143.
444 Beutler, E., 2008. “Glucose-6-phosphate dehydrogenase deficiency: a historical
445 perspective”. Blood. 111:16-24.
446 Bonilla, C., M. D. Shriver, E.J. Parra, A. Jones, and J.R. Fernandez. 2004. “Ancestral
447 proportions and their association with skin pigmentation and bone mineral density
448 in Puerto Rican women from New York city”. Human Genetics 115:57-68.
449 Cabrera Llano, J., M. Castellano Gonzalez, N. Lopez Hernadez, and P.C. Hidalgo.
450 1995. “ Electroforesis de 1,149 muestras de sangre de cordon umbilical y
451 evaluación de la heterogeneidad de la relación entre cadenas γG y γA de la
452 hemoglobina fetal”. Sangre 40:67-69.
453 Cappellini M.D., and G. Fiorelli G. 2008. “Glucose-6-phosphate dehydrogenase
454 eficiency”. Lancet 371:64–74.ORIGINAL ARTI CLE

14
455 Carpio, Y., M. V. Sainz de la Peña, M. Santiesteban, F. Amaro, R. Ferreira, and .R .
456 Lleonart. 2005. “Genetic structure of a Cuban population based on nine short
457 tandem repeat loci”. International Journal Legal Medicine. 119: 137–141
458
459 Castellano, J., and I. Castellanos. 1988. Cultura Afrocubana 1. El Negro en Cuba, 1492-
460 1844. Barcelona, Editorial Vosgos.
461
462 Chaves, M., and M. Zambrano. 2006. “From blanqueamiento to reindigenización:
463 paradoxes of mestizaje and multiculturalism in contemporary Colombia”.
464 European Review Latin American and Caribbean Studies. 80, April.
465 http://www.cedla.uva.nl/50_publications/erlacs_index.html#80
466

467 Cintado, A., O. Companioni, M. Nazabal, H. Camacho. A. Ferrer, M. E. Fernandez de

468 Cossio, A. Marrero, M. Ale, A. Villarreal, L. Leal, R. Casalvilla, J. Benitez, L.
469 Novoa, O. Diaz-Horta, and M. Dueñas. 2009. “Admixture estimates for the
470 population of Havana City”. Annals Human Biology 36: 350-360
471

472 Crawford, M.H.1983 "The anthropological genetics of the Black Caribs (Garifuna) of
473 Central America and the Caribbean," Yearbook of Physical Anthropology. 25: 155-
474 186.
475

476 Colombo, B., and G. Martínez. 1985. Hemoglobin variants in Cuba. Hemoglobin 9:415-
477 9.
478 Colombo, B., E. Svarch, and G. Martínez. 1994. “Genética y clínica de las
479 hemoglobinas humanas”. La Habana: Editorial Pueblo y Educación.
480 Collazo, T., C. Magarino, R. Chavez, B. Suardiaz, S. Gispert, M. Gomez, M. Rojo, and
481 L. Heredero. 1995. “ Frequency of Delta-F508 Mutation and XV2C/KM19
482 Haplotypes in Cuban Cystic Fibrosis Families “. Human Heredity. 45:55-57.
483 Collazo, T., A.M. Boffil, Y. Clark, Y. Hernandez, M. Gomez, F. Rodriguez, M.D.
484 Ramos, J. Jimenez, T. Casals, and M. Rojo. 2009. Common mutations in cuban
485 cystic fibrosis patients. Journal of Cystic Fibrosis. 8:47-49.
486 Curtin, P.D., 1969. The Atlantic Slave Trade: a census. Milwauke, The University of
487 Wisconsin Press.
488 Deason, M.L., A. Salas, S.P. Newman, V. A. Macaulay, E.Y.st A. Morrison, and Y.A.
489 Pitsiladis. 2012. “ Interdisciplinary approach to the demography of Jamaica“. BMC
490 Evolutionary Biology. 12:24.
491 Diaz-Horta , O., A. Cintado, M.E. Fernandez-de-Cossio, M. Nazabal, A. Ferrer, J.
492 Roca, H. Camacho, J. Benitez, M. Ale, A. Villareal, G. Molina, M. Vera, E.
493 Cabreara, and L. Novoa. 2010. “Relationship of type 1 diabetes to ancestral
494 proportions and HLA DR/DQ alleles in a sample of the admixed Cuban
495 population”. Annals of Human Genetics. 37:778-788.

15
496 Diaz Soler, L.M. 1953. Historia de la esclavitud negra en Puerto Rico (1493-1890).
497 Puerto Rico, Ed. Universidad de Puerto Rico.
498 Esteva Fabregat, C., 1988. “El mestizaje en Iberoamérica”. Madrid, Alhambra.
499 Fairhurst R.M., H. Fujioka, K. Hayton, K.F. Collins, and T.E. Wellems. 2003.
500 "Aberrant development of Plasmodium falciparum in hemoglobin CC red cells:
501 implications for the malaria protective effect of the homozygous state". Blood 101:
502 3309–15.
503 Fernandez-Cobo, M., D. V. Jobes, R. Yanagihara. R. Nerurkar, Y. Yamamura, C. F.
504 Ryschkewitsch, and G. L. Stoner. 2001. “Reconstructing population history using
505 JC virus: Amerinds, Spanish, and Africans in the ancestry of modern Puerto
506 Ricans”. Human Biology. 73: 385-402.
507 Franco, J. L. 1975. La diáspora africana en el Nuevo Mundo. La Habana: Editorial de
508 Ciencias Sociales.
509 Franco, J. L. 1961. Afroamérica. Junta Nacional de Arqueología y Etnología. La
510 Habana.

511 Friedländer, H., 1944. Historia económica de Cuba. La Habana, J. Montero.

512
513 Guerra, R. 1971. Manual de Historia de Cuba. La Habana, Editorial de Ciencias
514 Sociales.

515 Gibbs, W.N., F. Ottey, and H. Dyer. 1972. “Distribution of Glucose-6-Phosphate

516 Dehydrogenase Phenotypes in Jamaica”. American Journal of Human Genetics.
517 24:18-23.
518
519 González, R., M. Estrada, and B. Colombo. 1973. “G-6-PD Polymorphism and Racial
520 Admixture in the Cuban Population”. Humangenetik 26:75-78.
521
522 Hanis C.L., D. Hewett-Emmett, T. K. Bertin, and W. J. Schull. 1991. “Origins of U.S.
523 Hispanics. Implications for diabetes”. Diabetes Care. 14:618-627
524 Hidalgo, P.C., O.L. Gonzalez, M. Rodriguez, and T. Castellanos. 1987. “Analisis del
525 Polimorfismo Genético de la G-6FD Eritrocitaria en la Región Central de Cuba”.
526 Medicentro. 3: 149-157.
527 Howes, R.E., M. Dewi, F.B. Piel, W.M. Monteiro, K.E. Battle, J.P. Messina, A.
528 Sakuntabhai , A.W. Satyagraha, T. N. Williams, J. K. Baird, and S.I. Hay. 2013.
529 “Spatial distribution of G6PD deficiency variants across malaria-endemic regions”.
530 Malaria Journal. 12:418. doi: 10.1186/1475-2875-12-418.
531 Katz, W. L. 1986. Black Indians: A Hidden Heritage. New York, Atheneum
532 Kéclard L., V. Ollendorf, C. Berchel, H. Loret H and G. Mérault.1996. “ß S haplotypes,
533 a-globin gene status, and hematological data of sickle cell disease patients in
534 Guadeloupe (F.W.I.)”. Hemoglobin 20:63-74.
535

16
536 Keegan, W. F. 1995. “Modeling dispersal in the prehistoric West-Indies”. World
537 Archaeology. 26:400-420.
538
539 Klein, H.S. 1986. La Esclavitud Africana en América Latina y el Caribe. Madrid,
540 Alianza Editorial.
541
542 Kreuels B, C. Kreuzberg, R. Kobbe, M. Ayim-Akonor, P. Apiah-Thompson, B.
543 Thompson, C. Ehmen, S. Adjei, I. Langefeld, O. Adjei, and J. May. 2010.
544 “Differing effects of HbS and HbC traits on uncomplicated falciparum malaria,
545 anemia, and child growth”. Blood.115:4551-4558.
546
547 Lachatañere, R., 1961. “Tipos étnicos africanos que concurrieron en la amalgama
548 cubana”. Archivos del Folklore 1:72-82.
549
550 Lai, L. 1998. The Chinese in the West Indies 1806-1925: a documentary history.
551 Kingston: The Press University of the West Indies.
552
553 Lai C-Q., K.I. Tucker, S. Choudhry, L.D. Parnell, J. Mattei, B. Garacia-Ballo, K.
554 Beckman, E. Gonzalez Burchard, and J.M. Ordoves. 2009. “Population admixture
555 associated with disease prevalence in the Boston Puerto Rican health study”.
556 Human Genetics 125:199-209.
557
558 Le Riverend, J., 1986. Historia Económica de Cuba. La Habana, Ed. Nacional de Cuba.
559
560 Lovejoy, P.E. 1982. “The Volume of the Atlantic Slave Trade: A Synthesis”. Journal of
561 African History. 23:473-501.
562
563 Marcheco-Teruel, B., E.J. Parra, E. Fuentes-Smith, A. Salas, H.N. Buttenschon, D.
564 Demontis, M. Torres-Español, L.C. Marín-Padrón, E.J. Gomez-Cabezas,, V.
565 Alvarez-Iglesias, A. Mosquera-Miguel, A. Martinez-Fuentes, A. Carracedo, A.D.
566 Borglum, and O. Mors. 2014. “Cuba: Exploring the History of Admixture and the
567 Genetic Basis of Pigmentation Using Autosomal an Uniparental Markers”. PLoS
568 Genetics 10: e1004488. Doi: 10.1371/journal.pgen.1004488.
569
570 Martínez, G. and M.E. Cañizares. 1982. “Genetic hemoglobin abnormalities in 2363
571 Cuban newborns”. Human Genetics. 62: 250-251.
572
573 Martinez-Cruzado, J.C., G. Toro-Labrador, V. Ho-Fung, M.A. Estevez-Montero, A.
574 Lobaina-Manzanet, D.A. Padovani-Claudio, H. Sanchez-Cruz, P. Ortiz-Bermudez,
575 and A. Sanchez-Crespo. 2001. “Mitochondrial DNA Analysis Reveals Substantial
576 Native American Ancestry in Puerto Rico”. Human Biology. 73:491-512.
577
578 Martínez Cruzado JC. 2002. “El uso del ADN mitocondrial para descubrir las
579 migraciones precolombinas al Caribe: Resultados para Puerto Rico y expectativas
580 para la República Dominicana”. KACIKE: Journal Caribbean Amerindian History
581 and Anthropology. http://www.kacike.org/Current.html
582

583 Meagher, A. J. 2008. The Coolie Trade: The Traffic in Chinese Laborers to Latin
584 America. Xlibris, Philippines.

17
585 Mendizabal, I., K. Sandoval, G. Berniell-Lee, F. Calafell. A. Salas, A. Martinez-
586 Fuentes, and D. Comas.2008. “Genetic origin, Admixture, and asymmetry in
587 maternal and paternal human lineage in Cuba”. BMC Evolutionary Biology 8: 213.
588 doi: 10.1186/1471-2148-8-213.

589 Miljkovic-Gacic, I , R. E. Ferrell, A.L. Patrick, C.M. Kammerer, and C.H. Bunker.
590 2005. “Estimates of African, European and Native American ancestry in Afro-
591 Caribbean men on the island of Tobago “. Human Heredity. 60:129-133,

592 Modell, B., and M. Darlison. 2007. Epidemiological Estimates for Haemoglobin
593 Disorders: WHO America Region by Country. WHO Collaborating Centre for the
594 Community Control of Hereditary Disorders.

595 Monteiro W.M., F. F.A. Val, A. M. Siqueira, G. P. Franca, V.S. Sampaio, G.C. Melo,
596 A. C.G. Almeida, M.A.M. Brito, H.M. Peixoto, D. Fuller, Q. Bassat, G. A.S.
597 Romero, M.R. F. Oliveira, and M.V. G. Lacerda. 2014. “G6PD deficiency in Latin
598 America: systematic review on prevalence and variants “. Memorias Instituto
599 Oswaldo Cruz. 109: 553-568.
600
601 Moreira de Lima, L. 1999. La Sociedad Comunitaria de Cuba. La Habana: Felix
602 Varela.
603
604 Motulsky AG: 1965. “Theoretical and clinical problems of glucose-6-phosphate-
605 dehydrogenase deficiency”. In Abnormal Haemoglobins in Africa, ed. J.H.P.
606 Jonxis. pp. 146-196. Philadelphia, Davis.
607
608 Muñiz, A., L. Corral, C. Alaez, E. Svarch , E. Espinosa, N Carbonell, R. Di Leo, L.
609 Felicetti , R. L. Nagel and G. Martinez G. 1995. “Sickle cell anemia and ß-gene
610 cluster haplotypes in Cuba”. American Journal of Hematology. 49:163-164.
611
612 Muñiz, A., A. Puig Cano, M. Cabrera Zamora, J. Fernandez Aguila, and G. Martinez
613 Antuña. 2000. “ Marcadores Genéticos en pacientes con anemia drepanocítica de la
614 provincia de Cienfuegos: Haplotipos del bloque β y α- Talasemia”. Revista Cubana
615 Hematología, Inmunología y Hemoterapia. 16:142-144.
616
617 Naranjo Orovio, C., 1993. “ La emigración española a Iberoamérica desde 1880 a 1930
618 análisis cuantitativo”. In Cuba y España. Poblamiento y nacionalidad. pp. 116-155.
619 La Habana, ICI-Editorial de Ciencias Sociales.
620
621 Nash, G.B. 1989. Pieles Rojas, Blancas y Negras. México, Fondo Cultura Económica.
622
623 Novelo O. V. 2012. ”Migraciones Mayas y Yucatecas a Cuba; Notas Etnográficas“.
624 Revista Brasileira do Caribe. 25:159-175.
625
626 Nutini, H. and B. Isaac. 2009. Social Stratification in central Mexico 1500–2000. Texas,
627 University of Texas Press.

628 Ortiz, F. 1916. Hampa afro-cubana: Los negros esclavos; estudio sociológico y de
629 derecho público. Habana, Revista Bimestre Cubano.
630

18
631 Patterson, O. 1967. The Sociology of Slavery. London: MacGibbon & Kee.
632 Pérez de la Riva, J. 1973. Desaparición de la población indígena cubana. Universidad
633 de la Habana, No. 176, La Habana.
634 Phillips, W.D. 1990. Historia de la Esclavitud en España. Madrid, Editorial Playor.
635 Price R, Price S. 2002. Les Marrons en Guyane. Châteauneuf-le-Rouge: Vents
636 d'Ailleurs.
637 Reyes Cardero, J. M., 2009. “La Inserción del Aborigen en la Sociedad Colonial
638 Santiaguera: El Caso del Pueblo Indio de San Luis de los Caneyes”. Ciencia en su
639 PC. 1:3-16.
640 Ribeiro D. 1969. Las Américas y la Civilización. 2 Los pueblos nuevos. Argentina:
641 Centro Editor de América Latina.
642 Rivero de la Calle, M. 1966. Las Culturas Aborígenes de Cuba. La Habana, Editora
643 Universitaria,
644 Rogozinski J. 1992. A Brief History of the Caribbean. New York: Facts on File.

645 Rouse, I. 1992. The Tainos. Rise and Decline of the People Who Greeted Columbus.
646 New Haven,Yale University Press

647 Saco, J. A. 2006. Historia de la Esclavitud. La Habana, Ediciones IMAGEN

648 CONTEMPORÁNEA; Colección Biblioteca de Clásicos Cubanos, No. 28.
649 Sáenz Renauld, G.F., W. Rios Romero; and M. Chaves Villalobos. 1993. “Variantes
650 estructurales de las hemoglobinas en Iberoamérica” Revista de Biología Tropical.
651 41:393-403.
652 Salas, A., A. Carracedo, M. Richards, and V. Macaulay. 2005. “Charting the Ancestry
653 of African Americans”. American Journal of Human Genetics. 77:676-680.
654 Salzano, F.M., and M.C. Bortolini. 2002. The Evolution and Genetics of Latin American
655 Populations. Cambridge, Cambridge University Press.
656 Schroeder, H., M.C. Avila-Arcos, A-S. Malaspina, G.D. Poznik, M. Sandoval-Velasco,
657 M.L. Carpenter, J. V. Moreno-Maya, M. Sikora, P.L.F. Johnson, M.E. Allentoft,
658 J.A. Samaniego, J.B. Haviser, M.W. Dee, T.W. Stafford, A. Salas, L. Orlando, E.
659 Willerslev, C.D. Bustamante, and TG Gilbert. 2015. “ Genome-wide ancestry of
660 17th-century enslaved Africans from the Caribbean“. Proceedings of National
661 Academy of Sciences (USA). 112:3669-3673.
662

663 Simms T.M., C.E. Rodriguez, R. Rodriguez, and Rene J. Herrera. 2010. “The Genetic
664 Structure of Populations from Haiti and Jamaica Reflect Divergent Demographic
665 Histories”. American Journal of Physical Anthropology. 142:49-66.
666

19
667 Simms, T.M., M.R. Wright, M. Hernandez, O.A. Perez, E.C. Ramirez, E. Martinez, and
668 R.J. Herrera. 2012. “Y-Chromosomal Diversity in Haiti and Jamaica: Contrasting
669 Levels of Sex-Biased Gene Flow”. American Journal of Physical Anthropology.
670 148:618-631.
671 Skidmore, T. E. 1999. Brazil: Five centuries of Change. Oxford: Oxford University
672 Press.
673
674 Skidmore, T. E., and P. Smith. 2005. Modern Latin America.6th ed. Oxford, Oxford
675 University Press.
676 Smallwood, A.D., and A.D. Elliot 1998. The Atlas of African-American History and
677 Politics: From the Slave Trade to Modern Times. Boston, McGraw Hill.
678 Stern, A. M. 2003. "From Mestizophilia to Biotypology: Racialization and Science in
679 Mexico, 1920–1960". In Race and Nation in Modern Latin America, ed. N. P.
680 Appelbaum, A. S. Macpherson, and K. A. Rosemblatt , pp. 187-210. North Carolina,
681 University of North Carolina Press.
682
683 Sued-Badillo J. 2011. “From Tainos to Africans in the Caribbean: Labor, Migration,
684 and Resistence”. In The Caribbean: a history of the region and its peoples, ed. S.
685 Palmie and F.A. Scarano, pp. 97-113. Chicago, The University of Chicago Press.
686 Sullivan L M. 2006. “Adventure Guide to Aruba, Bonaire & Curaçao”. Edison, NJ:
687 Hunter Publishing.
688 Sweeney, J. L. 2007. "Caribs, Maroons, Jacobins, Brigands, and Sugar Barons: The Last
689 Stand of the Black Caribs on St. Vincent", African Diaspora Archaeology
690 Network. University of Illinois, Urbana-Champaign.
691 Tabio, E., and E. Rey.1985. Prehistoria de Cuba. La Habana, Editorial de Ciencias Sociales.
692 Thomas, H., 1998. La trata de esclavos. Historia del tráfico de seres humanos de 1440
693 a 1870. Barcelona, Planeta.
694 Wade, P. 2003. "Race and Nation in Latin America: An Anthropological view". In Race
695 and Nation in Modern Latin American, ed. N. P. Appelbaum, A. S. Macpherson, and K.
696 A. Rosemblatt, pp. 263–283. North Carolina, University of North Carolina Press.
697
698 Weatherall, D. J., and J. B. Clegg .2001. “Inherited haemoglobin disorders: an
699 increasing global health problem”. Bulletin World Health Organization. 79:704-
700 712.
701 Ziv, E., E.M. John, S. Choudhry, J. Kho, W. Lorizio, E. J. Perez-Stable, and E.
702 Gonzalez Buchard.2006. “Genetic ancestry and risk factors for breast cancer among
703 Latinas in the San Francisco Bay Area”. Cancer Epidemiology, Biomarkers &
704 Prevention. 15:1878–1885.
705
706
707
708
709
710

20
711 Figure 1. Antilles Map
712

713
714
715
716
717 .
718
719
720
721
722
723
724
725
726
727
728
729
730
731
732
733
734
735
736
737
738
739
740
741
742

21
743 Table 1. Historical Caribbean Colonizers
744 __________________________________________________________________
745 Colonizer Colonies
746 __________________________________________________________________
747 Spain Cuba, Dominican Republic, Puerto Rico
748
749 British Bahamas, Jamaica, Cayman Islands, Turks and Caicos Islands,
750 Antigua, Dominica, St. Lucia, St. Vincent, Grenada, Barbados, Virgin
751 Islands, Trinidad and Tobago, Montserrat, Anguilla, St. Kitts and Nevis
752
753 Dutch Curacao, Bonaire, Aruba, St. Eustatius, Saba and Sint Maarten (S. half)
754
755 French Haiti, Guadeloupe, Martinique, St. Martin (N. half), St. Barthelemy
756
757 United States Puerto Rico, Virgin Islands
758 ______________________________________________________________________
759
760
761
762
763
764
765
766
767
768
769
770
771
772
773
774
775
776
777
778
779
780
781
782
783
784
785
786
787
788
789
790
791
792

22
793 Table 2. Admixture Estimate (%) in some Antillean Populations

794 ______________________________________________________________________

795 Country Marker European African Native Americans Reference

796 ______________________________________________________________________
797 Puerto Rico Classical Markers 45 18 37 1
798 Puerto Rico AIMs 53.3 29.1 17.6 2
799 Puerto Rico AIMs 57.2 27.4 15.4 3
800 Caribbean Born SNPs 65.9 20.2 13.9 4
801 Cuba Classical Markers 62.0 18.0 20.0 1
802 Cuba SNPs 72.0 20.0 8.0 5
803 Cuba AIMs 56.2 43.8 -- 6
804 Cuba AIMS 73.0 26.2 0.8 7
805 Jamaica AIMs 12.4 84.4 3.2 8
806 Jamaica AIMs 10.3 81.4 8.3 9
807 Barbados AIMs 10.2 89.6 0.2 8
808 St. Thomas AIMs 10.6 86.8 2.6 8
809 Dominican AIMs 28.1 55.6 16.2 9
810 Grenada AIMs 12.1 81.1 6.8 9
811 St. Kitts AIMs 8.2 85.9 5.8 9
812 St. Lucia AIMs 17.9 74.5 7.5 9
813 St. Thomas AIMS 16.9 77.4 5.6 9
814 Trinidad AIMs 15.8 75.0 9.2 9
815 St. Vicent AIMs 12.8 80.6 6.5 9
816 _________________________________________________________________

817 AIMs: Ancestry Informative Markers; SNP: Single Nucleotide polymorphisms

818 Reference: 1) Hanis et al. 1991; 2) Bonilla et al.2004; 3) Lai et al. 2009; 4) Ziv et al.
819 2006; 5) Marcheco-Teruel et al. 2014; 6) Cintado et al. 2009; 7) Diaz-Horta et al.
820 2010; 8) Benn-Torres et al. 2007; 9) Benn-Torres et al. 2013

821

23
822 Table 3. Distribution (%) of Mitochondrial DNA Haplogroups in Caribbean countries

823

824 Country European African Native American Reference

825 Cuba 22.0 45.0 33.0 Mendizabal et al. 2008

826 Cuba 26.7 28.8 34.5 Marcheco-Teruel et al. 2014

827 Puerto Rico 11.5 27.2 61.3 Martinez-Cruzado et al. 2005

828 Jamaica 2.5 96.5 1.0 Deason et al. 2012

829 Dominica 72.0 28.0 Benn-Torres et al 2007a

830 Grenade 14.0 86.0 Benn-Torre et al. 2007a

831 St. Kitts 2.0 98.0 Benn-Torres et al. 2007a

832 St. Lucia 2.8 96.2 Benn-Torres et al.2007a

833 St. Vicent 5.4 92.7 1.8 Benn-Torres et al. 2007a

834 Trinidad 8.2 87.7 4.1 Benn-Torres et al. 2007ª

835 __________________________________________________________________

836

837

838

839

840

841
842
843
844
845
846
847
848
849
850
851
852
853
854

24
855 Table 4. Prevalence of Hb S and Hb C in the Antillean Populations

856 __________________________________________________________________

857 Country HB S (%) HB C (%)

858 _____________________________________________________________
859 Antigua & Barbuda 10.0 2.0
860 Barbados 7.0 5.0
861 Cuba 6.1 3.0
862 Curazao 10.7 6.4
863 Dominica 13.1 1.2
864 Dominican Republic 7.0 1.1
865 Granada 10.0 2.0
866 Guadalupe 9.2 2.6
867 Haití 10.0 3.0
868 Jamaica 10.0 3.6
869 Martinica 9.4 4.2
870 Netherland Antilles 10.0 2.0
871 Puerto Rico 7.1 1.2
872 S. Lucia 14.0 3.8
873 S. Vicente 8.7 2.7
874 S. Thomas 9.1 4.0
875 Surinam 17.1 2.6
876 Trinidad 11.1 2.9
877 _________________________________________________________________
878 Source: Martínez, and Cañizares 1982; Colombo, and Martínez. 1985; Colombo et al.
879 1994; Saenz Renauld et al. 1993; Modell and Darlison 2007.
880
881
882
883
884
885
886
887

25
888
889 Table 5. Frequency distribution (%) of the typical ßS haplotypes in some Caribbean
890 countries.
891
892 ßS haplotypes
893 ________________________________________________
894 Country Arab-Indian Bantu Benin Senegal CAR Atypical Reference
895 ___________________________________________________________________
896
897 Cuba 41 51 8.0 Muñiz et al. 1995
898 Cuba 48.2 40.7 11.1 Muñiz et al.1999
899 Guadalupe 11.5 77.0 8.7 2.8 Kéclard et al. 1996
900 Jamaica 8.3 76.0 5.2 10.5 Bitoungi et al. 2015
901 Trinidad 3.2 17.3 61.8 8.5 3.5 Bitoungi et al. 2015
902 Suriname 29.9 50.8 2.3 14.1 0.6 Bitoungi et al. 2015
903 ______________________________________________________________________
904
905
906
907
908
909
910
911
912
913
914
915
916
917
918
919
920
921
922
923
924
925
926
927
928
929
930
931
932
933
934
935
936
937

26
938 Table 6. Prevalence of G6PD deficiency in Caribbean Islands.
939
940 ______________________________________________________________________
941 Country Male (M) Prevalence Female (F) Prevalence Reference
942 range range
943
944 Cuba
945 (Total) 7957 0.6-16.1 1813 0.7-10.2 Monteiro et al. 2014
946 Cuba (Central
947 Region) 2489 5.6 385 6.0 Hidalgo et al. 1987
948 Cuba
949 (Newborn) 209 6.2 Hidalgo et al. 1987
950 Curaçao 573 14 213 10.3 Monteiro et al. 2014
951 Jamaica 976 13.5 524 4.1-28.3 Monteiro et al. 2014
952 Puerto Rico 56 5.4 143 2.8 Monteiro et al. 2014
953 Saint Lucia 427 14.8 143 2.8 Monteiro et al. 2014
954 Suriname 1507 3.2-20.2 422 1.4 Monteiro et al. 2014
955 Trinidad 328 13.4 Monteiro et al. 2014
956 ______________________________________________________________________
957
958
959
960
961
962
963
964
965
966
967
968
969
970
971
972
973
974
975
976
977
978
979
980
981
982
983
984
985
986
987

27
 988 Table 7. Cystic Fibrosis Mutations in Antillean islands.
989
990 ______________________________________________________
991 Country ΔF508 % Reference
992 ______________________________________________________
993
994 Dominican Republic 92.0 Arzimanoglou et al. 1995
995 Puerto Rico 77.0 Arzimanoglou et al. 1995
996 Cuba 34.0 Collazo et al. 1995
997 Cuba 37.9 Collazo et al. 2009
998 ________________________________________________________
999
1000
1001
1002
1003
1004
1005
1006
1007
1008
1009
1010
1011
1012
1013
1014
1015
1016
1017
1018
1019
1020
1021
1022
1023
1024
1025

28