M.Sc.

, HUMAN GENETICS
Course Structure - (w.e.f. 2009-2010)
Semester I
-------------------------------------------------------------------------------------------------------------------------------
!"#er T$t%e of t&e #"#er I'ter'"% Semester E'( Tot"% Cre($ts
1.1 !r$'c$#%es of Hum"' Ge'et$cs 1) *) 100 +
1.2 Hum"' A'"tom, "'( !&,s$o%o-, 1) *) 100 +
1.. Hum"' C,to-e'et$cs 1) *) 100 +
1.+ !o#u%"t$o' Ge'et$cs "'( /$ost"t$st$cs 1) *) 100 +
1.) !r"ct$c"% - I -- 100 100 +
1.0 !r"ct$c"% - II -- 100 100 +
Semester II
------------------------------------------------------------------------------------------------------------------------------
!"#er T$t%e of t&e #"#er I'ter'"% Semester E'( Tot"% Cre($ts
2.1 Me($c"% "'( C"'cer Ge'et$cs 1) *) 100 +
2.2 Hum"' /$oc&em$c"% Ge'et$cs 1) *) 100 +
2.. Hum"' Mo%ecu%"r Ge'et$cs 1) *) 100 +
2.+ /$o$'form"t$cs 1) *) 100 +
2.) !r"ct$c"% - III -- 100 100 +
2.0 !r"ct$c"% - I1 -- 100 100 +
2.2 Fundamentals of Human Genetics 1) *) 100 +
(3#t$o'"% !"#er4No'-core su56ect - for ot&er 7e#"rtme'ts)
Semester III
------------------------------------------------------------------------------------------------------------------------------
!"#er T$t%e of t&e #"#er I'ter'"% Semester E'( Tot"% Cre($ts
..1 Immu'o-e'et$cs 1) *) 100 +
..2 Ge'et$c Scree'$'- "'( Cou'se%$'- 1) *) 100 +
... Ge'et$c E'-$'eer$'- 1) *) 100 +
..+ Ge'om$cs "'( !roteom$cs 1) *) 100 +
..) !r"ct$c"% -1 -- 100 100 +
..0 !r"ct$c"% -1I -- 100 100 +
..2 Advanced Human Genetics 1) *) 100 +
(3#t$o'"% !"#er4No'-core su56ect - for ot&er 7e#"rtme'ts)
Semester I1
------------------------------------------------------------------------------------------------------------------------------
+.1 7$ssert"t$o' 5"se( o' !ro6ect wor8 100 )
+.2 Com#re&e's$9e 1$9" 1oce 100 )
Gr"'( Tot"%: I I1 Semesters 2200 -90
Semester - I
!"#er 1. 1: !r$'c$#%es of Hum"' Ge'et$cs
U'$t I
Cell cell growth cell cycle and cell death
Chromosomal basis of Heredity distribution of chromosomes during mitosis,
meiosis and Gametogenesis. Human Chromosomes types.
U'$t II
Mendels Laws of inheritance, Gene action, Simple single factor inheritance
autosomal dominant ! autosomal recessi"e, # lin$ed dominant, # lin$ed
recessi"e and % lin$ed characters&
Se' influenced and se' limited characters.
U'$t III
Multiple alleles (olygenic inheritance Lin$age and Crossing o"er types of
crossing o"er Genetic and (hysical mapping.
U'$t I1
Mutations Lethal and sub ) lethal genes aspects of phenotype e'pression
(enetrance and *'pressi"ity& Heredity and *n"ironment +win studies&.
SUGGESTE7 /33;S:
,. (rinciples of Human Genetics Curt Stern
-. Human Genetics .ictor /, Mc$usic$
0. Human Genetics 1. .ogel and /.G. Motuls$y
2. Genetics in Medicine M.3. +hompson, 4.4 Meinees and H.1. 3illard.
5. 6asic Human Genetics *.7 Mande and /.(. Mange.
8. Human Genetics 9iyogi and Sri"astha"a.
:. Genetics M. (. /rora and G. S. Sandhu Himalaya (ublishing House&
;. Genetics (. <. Gupta4astogi (ublications&
(age 9o. HG.=,
!"#er - 1.2: Hum"' A'"tom, "'( !&,s$o%o-,
U'$t I
>ntroduction to Human /natomy and (hysiology. +ypes of tissues *pithelial, Connecti"e,
Muscular and 9er"ous. Glands.
6ones structure, de"elopment, function and classification
S$eletal system) /'ial s$eleton, /ppendicular s$eleton and /rticulations
U'$t II
+he >ntegument system structure, function, deri"ati"es of the s$in.
Muscular system) types of muscles, muscle physiology.
?igesti"e system organi@ation of the digesti"e system, regional digestion, metabolism of
carbohydrates, proteins, lipids.
U'$t III
4espiratory system organs of respiratory system, physiology of respiration
Arinary system organs of urinary system, urine formation
*ndocrine system hormones, mechanism of hormone action, different ductless glands thyroid,
parathyroid, adrenal and pituitary glands.
U'$t I1
Circulatory system Heart, blood "essels, cardiac cycle, blood pressure.
6ody fluids blood, lymph and tissue fluids.
9er"ous system 9eurons, ner"e impulse
4eproducti"e system male and female reproducti"e systems, basic embryology.
SUGGESTE7 /33;S:
,. Human /natomy and (hysiology by 7* Crouch and 74 Mac Clintic$
-. Human /natomy and (hysiology by *6 Steen and /. Montagua .ol. > B >> &
0. Human /natomy and (hysiology by ?C <imber et al
2. Human /natomy and (hysiology by *7 4eith et al
(age 9o. HG.=-
!"#er 1..: Hum"' C,to-e'et$cs
U'$t I
History and de"elopment of Human Cytogenetics
+he Human ChromosomesC >ntroduction Morphological "ariability of the
human chromosome! 6anded chromosome and indi"idual characteri@ation of the
human chromosomes! Standardi@ation in Human Cytogenetics! General remar$s!
U'$t II
+he origin and transmission of chromosomal abnormalities>ntroduction, numerical
changes resulting from disturbances of chromosome distribution ! structural
chromosomal abnormalities, 1ragile # chromosome, Genomic imprinting.
U'$t III
Heterochromatin and genetic inacti"ation 9ature of the # ) chromatin,
#)inacti"ation as the mechanism of gene dosage compensation! Lyons hypothesis!
U'$t I1
Som"t$c ce%% -e'et$csC Cell cultures, somatic cell hybridi@ation, ma$ing cell lines with different
chromosomes, use of somatic cell hybrids in gene mapping. Dther methods of transfer of genetic
information. Complementation, mutations in cell cultures, studies of differentiated cell functions.
Mo%ecu%"r C,o-e'et$cs 1luorescence in situ hybridi@ation.
SUGGESTE7 /33;SC

,. Human Cytogenetics "ol. > B >> & 7.L. Hamerton
-. Human chromosomes C *.H. 1D4?
0. Human chromosomes C S. Ma$ina
2. chromosome in mitosis and interphase H.G. schwar@acher
5. Molecular structure of human chromosomes C 7.7. yunis
8. Human Genetics .ictor /, Mc$usic$
:. Human Genetics 1. .ogel and /.G. Motuls$y.
;. genetics and Medicine M.3 +hompson, 4.4. Meinees and H.1 3illard
E. 6asic human genetics *.7. Mange and /.(. Mange.
,=. Human Genetics 9iyogi and Sri"astha"a.
,,. Medical Genetics 7orde et al
,-. Clinical atlas of human chromosomes C 7ean ?egrouchy and C. +urleau.
,0. 9ew chromosomal syndromes C 7.7. %unis
(age 9o. HG.=0
!"#er- 1.+: !o#u%"t$o' Ge'et$cs "'( /$ost"t$st$cs
U'$t I:
Mendelian (opulation and scope of population genetics. Gene and genotype freFuencies,
mating patterns, Hardy)3einberg principle, hetero@ygotes, e'tention of H)3 principle to
multiple alleles, se')lin$ed alleles. 9on)random matings, inbreeding and assortati"e
matings, inbreeding coefficient. 1actors that change allelic freFuencies.
U'$t II:
Genetic polymorphism, transient and stable and factors responsible for stable
polymorphism. ?9/ mar$ers and populations differences. /pplication of population
genetics. 4ole of population genetics in genetic counseling. Genetic origin and e"olution
of human races. Genetic ?emography, age and gender specific death and birth rates,
intrinsic rate of natural increase. >nde' of opportunity for natural selection.
U'$t III:
>mportance of population studies, sampling techniFues, classification of data and
tabulation. Measures of central tendency) mean, median and mode. Measures of
dispersion ) .ariance and standard de"iation.
U'$t I1:
(robability laws of probability for independent e"ents permutations and combinations)
conditional probability. 6inomial distribution. +ests of significance chi sFuare test and
Gt test.
SUGGESTE7 /33;S :
,. +he Genetics of Human (opulations by LL Ca"alli)Sfor@a and 31 6odmer
1reeman and Company, ,E:,.
-. (opulation Genetics +heory by 7ames 1. Crow and 3. <imura
Harper and 4ow, ,E:=.
0. >ntroduction to 6iostatistics by (.S.S. Sundara 4ao and 7. 4ichard,9ew ?elhi
2. >ntroduction to 6iostatistics by 4obert 4. So$el and 7ames 1. <ohlf
5. Hunatitati"e Genetics ) ?ouglas S. 1alconer (earsons (ublications&

(age 9o. HG.=2
!"#er 1.): !<ACTICA= I
!"rt A
1. Ge'et$cs of /%oo( Grou#s
a& /6D typing
b& 4h ?& typing
c& /6H typing
2. Ge'et$c Tr"$ts
a& Colour 6lindness
b& (henyl +hio Carbamide (+C&
c& ?ermatoglyphics
!"rt /
,. Landmar$s of Human s$eleton
-. >dentification of the se' based on the (el"is, s$ull and other bones
0. /nthropometrical measurements on li"ing subIects
2. /nthroposcopic obser"ations
(age 9o. HG.=5

!"#er 1.0: !<ACTICA= II
!"rt A
,. Chromosome 9omenclature
-. <aryotyping
0. Metaphase drawing
2. ?rumstic$ and 6arr body identification
5. ?emonstration of Human blood lymphocyte culture
a. 3ashing and sterili@ation of glassware
b. Medium preparation
c. Setting up of lymphocyte culture
d. Har"esting and slide preparations
e. >dentification of indi"idual chromosomes
f. (reparation of G)banded chromosomes
!"rt /
( Ass$-'me't )
,. Measures of Central +endency
-. Measures of ?ispersion
0. Correlation
2. (robability
5. 6inomial ?istribution
8. +ests of Significance
:. Gene freFuencies)Hardy 3einberg *Fuilibrium
;. Genetic (olymorphism
E. Mutational 4ates
(age 9o. HG.=8
SEMESTE< II
!"#er- 2.1 : Me($c"% "'( C"'cer Ge'et$cs
U'$t I
Scope of Medical Genetics. S$in) >chthyosis, baldness, psoriasis, hereditary
Hemorrhagic telangiectasia, epiloia, multiple neurofibromatosis, the porphyrias, blooms
syndrome. +he s$eletal system Marfans syndrome, 9ail patella syndrome, 6rachydactyly,
syndactyly, (olydactyly, Spina bifida and anencephaly, /n$ylosing spondylitis, 4heumatoid
arthritis, Dsteogenesis imperfecta. Muscle Muscular dystrophies, Myotonia.
U'$t II
*ye Glaucoma, ptosis, sFuint, nystagmus, cataract, retinoblastoma. 7aws Hare lip and palate.
*ars ) ?eafness. /limentary system Hypertrophic pyloric stenosis, gastric and duodenal ulcers,
peptic ulcers, cirrhosis of li"er. 4espiratory system Cystic fibrosis.
Cardio "ascular system congenital heart disease, coronary heart diseases and Hypertension
Central ner"ous system +he ata'ias and familial spastic paraplegia. <idney and urinogenital tract
Cystinosis, polycystic $idney disease.*ndocrine system Cretinism, goiter, diabetes.
U'$t III
Cancer GeneticsC Characteristics of Cancer cells, Chromosomes in neoplasias, Cancer as a genetic
disorder, Cancer in families, loss of cell cycle control. >nherited "ersus sporadic Cancers.

U'$t I1
Molecular changes in proto)oncogenes, tumor suppressor genes)<nudsons Hypothesis,
4etinoblastoma, Lung cancer, Colon cancer, 6rain cancer, 6reast cancer, (rostrate cancer, cer"ical
and esophageal cancers. Cancer and en"ironmentC physical, chemical and biological carcinogens.
Cancer pre"ention, ?iet cancer associations, diagnosis and treatment
SUGGESTE7 /33;S :
,. Medical Genetics 7orde et al
-. Genetics and Medicine M.3 +hompson et al
0. Clinical Genetics /. Sorsby
2. Genetic ?isorders of Man 4. M. Goodman
5. *merys *lements of Medical Genetics 4. 1. Mueller and >.? %ound
8. Human Genetics 1. .ogel and /.G. Motuls$y.
:. Molecular Genetics of Cancer by Cowell
;. Molecular Genetics of Cancer by Stillman
E. / +e't 6oo$ of Molecular 6iotechnology S. 4am 4eddy, <. .en$ateswarlu B .. <. 4eddy
Himalaya (ublications&
(age 9o. HG.=:
!"#er -2.2: Hum"' /$oc&em$c"% Ge'et$cs
U'$t I
+he concept of biochemical polymorphism 6lood groups, en@ymes, protein and
?9/ polymorphisms S9(s
+he haemoglobin Structure, synthesis and functions of haemoglobin! Structural
"ariants and synthesis of globin chains.
U'$t II
*n@yme and protein polymorphism /cid phosphatase, Glyo'alase, *sterase) ?,
Supero'ide dismutase, Haptoglobin, /lbumin and group specific component
U'$t III
(harmacogenetics Glucose) 8) (hosphate dehydrogenase deficiency and serum
cholinesterase deficiency.
*cogenetics /lcohol dehydrogenase and /lpha ),) /ntitrypsin
(harmacogenomics
U'$t I1
>nborn errors of metabolism?isorders of carbohydrate metabolismGalactosaemia
?isorders of amino acid metabolism /l$aptonuria, (henyl$etonuria, /lbinism
and Homocystinuria
?isorders of Lysosomal en@ymes +ay) Sachs disease and Mucopolysaccharidoses
?isorders of Lipoprotein and lipid metabolism Hyper Lipoproteinemia
?isorders of (urine metabolism) Lesch 9yhan syndrome
?isorders of (yrmidine metabolism Drotic /ciduria
SUGGESTE7 /33;S
,. +he principles of Human biochemical genetics H. Harris
-. +he 6iochemical Genetics of man ?.7.H 6roc$ and D. Mayo
0. Genetic mar$ers in human blood *.4. Giblett
2. Medical 6iotechnology S. 9. 7ogdand Himalaya (ublications&
(age 9o. HG.=;
!"#er 2..: Hum"' Mo%ecu%"r Ge'et$cs
U'$t I
?9/ structure ! chromatin organi@ation ! internal organi@ation of gene ! nuclear
genome ! mitochondrial genome organi@ation ! uniFue seFuences and reiterated
seFuences, transposons, (seudogenes! gene families.
U'$t II
?9/ replication Meselson and stahl e'periment, en@ymes in"ol"ed in replication,
Mechanism of replication.
?9/ damage and repair, Central dogma.
+ranscription +ypes of 49/, mechanism of transcription, processing of m 49/
U'$t III
+ranslation Gene code, protein synthesis, post translational modification.
4egulation of gene e'pression)
+ranscriptional) promoters, transcription factors, inducible gene e'pression,
/lternate promoters.
(ost transcriptional) alternati"e splicing, alternate polyadenylation, 49/ editing!
*pigenetic mechanisms) ?9/ mathylation.
U'$t I1
+he antisense oligonucleotides!molecular e'planation of dominance and recessi"e
ness! unipareatal disomy! mosaicism! # chromosome inacti"ation.
SUGGESTE7 /33;S
,. Human Molecular genetics +. Strachan and /.( 4ead
-. Genetics in Medicine M.3. +hompson et al
0. (rinciples of Genetics ?.(. Snuslad B M.7 Simmons
2. Human Genetics. +he Molecular 4e"olution *.H Mc <on$ey
5. >ntroduction to Molecular Medicine ?.3. 4oss.
8. Molecular 6iology M.(. /rora Himalaya (ublications&
:. Human Molecular Genetics)-
nd
*dition)(eter Sud"ery (earson *ducation&
;. Molbio,1undamentals of Molecular 6iology)/"inashB<a$oli Apadhyay
Himalaya (ublishing House&
(age 9o. HG.=E
!"#er -2.+: /$o$'form"t$cs
U'$t I
6asics of Computers C(A, > J D units& and operating systems. >ntroduction and scope of
6ioinformatics. Computer networ$ing, >nternet and e)mail, concept of home pages and
web)sites, www, uniform resource locators
U'$t II
/rchi"ing and retrie"al of information) search *ngines, data bases, medline, 9C6>, nucleic
acid seFuences, genomes, protein seFuence and structures, 6ibliographic
U'$t III
/cess to molecular biology data basesC *ntre@, seFuence retrie"al system S4S&, protein
identification resources (>4&, seFuence alignments and phylogenetic trees.
Micro arrays and genome wide e'pression analysis. (harmacogenomics, patenting,
>ntellectual property rights and bioinformatics patents.
U'$t I1
Human Genome (roIectC Goals of HG(, the human genetic material, benefits from HG(,
*thical, legal and social implications of HG(. SeFuence of Human Genome. 6ioethics
and Genethics.
SUGGESTE7 <EA7INGS:
,. >ntroduction to 6ioinformatics by /ttwood and (arry Smith
-. 6ioinformatics for Geneticists by 6arnes and Gray ed&
0. >ntroduction to 6ioinformatics by Les$
2. 6ioinformaticsC SeFuence and analysis by Mount
5. 6ioinformatics 6asics by 4ashidi and 6uchler
8. 6ioinformaticsC Concepts, s$ills and applications by 4astogi et al
:. 6ioinformatics >nstant 9otes by 3esthead et al
;. 6ioethics in >ndia by /@ariah et al
E. 6ioethics for Scientists by 6ryant et
,=. 6ioinformatics 9.7. Chi$hale B .. S. Gomese Himalaya (ublishing House&
(age 9o. HG.,=
!"#er 2.): !<ACTICA= II
!"rt A
(Ass$-'me't)
,. Case studies on single gene disorders
a& /ustosomal ?ominant
b& /utosomal 4ecessi"e
c& #)lin$ed ?ominant
d& #)lin$ed 4ecessi"e
-. Case studies on multifactorial disorders
!"rt /
,. Sic$ling +est
-. Separation of abnormal heamoglobins
0. *stimation of Hb 1
2. *stimation of Hb /-
5. 4ed Cell *n@ymes /C(, *S?, and GLD,
8. (lasma proteins H(, C(, /L6 and +1
:. Screening for >nborn *rrors of Metabolism
;. *stimation of hemoglobin
(age 9o. HG.,,
!"#er 2.0: !<ACTICA= I1
!"rt A
,. >solation of ?9/ from peripheral 6lood
-. >solation of ?9/ from +issue
0. >solation of 49/ from Lymphocytes
2. Huantification of Genomic ?9/
5. Huality chec$ for Genomic ?9/
!"rt /

6ioinformatics
,. Literature search from 9C6>.
-. 3or$ing with Genome ?atabases
0. 3or$ing with (rotein ?atabases
2. Similarity search using 6L/S+
5. 3or$ing with 6ioinformatics tools
a. 4asmol
b. Swiss(?6
c. He'
d. Clustal #K3
8. Construction of (hylogenic +rees
(age 9o. HG.,-
!"#er: 2.2: >u'("me't"%s of Hum"' Ge'et$cs
(Optional Paper /Non Core Subject)
UNIT- I :
Mendals laws of inheritance! Simple single factor inheritance autosomal
dominant, autosomal recessi"e, ')lin$ed dominant, ')lin$ed recessi"e and %)lin$ed characters&!
Multifactorial inheritance! Se' influenced and se' limited characters ! (olygenic inheritance.
A9>+) >> C
Multiple alleles! Lethal and sub lethal genes! (enetrance and e'pressi"ity! Mutations! Lin$age and
Crossing o"er! Heredity and en"ironment +win study&.
A9>+) >>> C
(opulation studies and their importance! 1amily studies and pedigree analysis! *stimation of gene,
genotype and phenotype freFuencies! 4andam mating and its conseFuences! Hardy) 3einberg
law! Genetic polymorphism balanced and transient&! >nbreeding types of consanguineous
marriages.
A9>+) >. C
Scope of genetic councelling) Methods of genetic councelling
Scope of genetic screening ) (renatal and postnatal genetic screening methods.
Su--este( /oo8sC
,, (rinciples of Human Genetics Curt Stern
-. Human Genetics 1. .ogel and /. G. Motuls$y
0. 6asic Human Genetics Mange and Mange
2. Genetic Counselling ) 3. 1uhramann and 1. .ogel
5. Genetics of Human (opulations Ca"allis S. for@a and 6odmer

(age 9o. HG.,-.a
SEMESTE< III
!"#er- ..1: Immu'o-e'et$cs
U'$t I
+he immune response 6asic concepts
+he innate immune system(hagocytes, the complement system, natural $iller cells
+he adapti"e immune system Cellular immune system, humoral immune system
U'$t II
>mmune response proteins Genetic basis of structure and di"ersity.
>mmunoglobulin molecules, +he genetic basis of antibody di"ersity,
+) cell 4eceptors
U'$t III
+he MaIor Histocompatability comple'
Class > HL/)/,6,C,*,1 B G&
Class >> HL/)?(,?4,?H& and Class >>> Complement genes &
MHC) ?isease associations
U'$t I1
>mmunodeficiency diseases) /gamma) globulinemia, Se"ere combined immuno)
deficiency, /ta'ia telangiectasia, 3is$ott) /ldrich syndrome.
/utoimmunity /ltering immune function "accines and transplants&! immuno)
therapy monoclonal antibodies and cyto$ines&, immunity brea$down />?S&
SUGGESTE7 /33;S:
,. 6asic immunogenetics ) 1udenberg et al
-. Medical Genetics 7orde et al
0. Human genetics 4ic$i Lewis
2. +he Metabolic 6asis of inherited ?isease Scri"er et al
5. Genetics in Medicine 7.S. +hompson and M.M. +hompson
8. 6lood Groups in Man 4.4 4ace and 4. Sanger
:. Human Genetics) 1 .ogel and /.G. Motuls$y
(age 9o. HG.,0
!"#er ..2: Ge'et$c Scree'$'- "'( Cou'se%$'-

U'$t I
Scope of genetic screening) (renatal and (ost natal screening. (opulation screening for
genetic diseases, family screening.
U'$t II
Scope of genetic counseling) methods of genetic counseling, educating the counselee,
presenting the ris$s and options and guiding. Social, ethical and legal issues. (atterns
of inheritance and ris$ assessment, chromosomal disorders, autosomal dominant and
recessi"e disorders, #)lin$ed disorders, multifactorial)polygenic disorders.
4eproducti"e failures, consanguinity.
U'$t III
(renatal screening methods) /mniocentesis) Chronic .illous sampling,
Altrasonography, 1etoscopy, Maternal blood sampling.
(ost)natal screening) chromosomal abnormalities, Cytogenetic disorders and molecular
methods.
U'$t I1
Gene +herapy) Classification of gene therapy) class >, >>, and >>>. +ypes of gene
therapy) germ line gene therapy and somatic gene therapy.
SUGGESTE7 <EA7INGS:
a. Human Molecular Genetics by +. Strachan and /( 4ead
b. Human Genetics by 1. .ogel and /.G. Motuls$y
c. Genetic *ngineering by Sandhya /. Mitra
d. Medical Genetics by 7ordee et al
e. Genetic Counseling by 3. 1uhramann and 1. .ogel
f. Genetics in Medicine by +homson and +homson.
(age 9o. HG.,2
!"#er ...: Ge'et$c E'-$'eer$'-
U'$t I:
>solation of nucleic acids, restriction en@ymes, restriction mapping, "ectors from
/nimal "iruses, special "ectors, ?9/ seFuencing, short gun method, (olymerase
Chain 4eaction (C4&, primer design, modifications of (C4, automated ?9/
seFuencing.
U'$t II:
Ligation of ?9/ fragments, ?9/ deli"ery methods, introducing genes in
pro$aryotes and eu$aryotes. >dentification of recombinants)direct and indirect
methods. *'pression of cloned genes.
U'$t III:
Dlegonucleotide synthesis, isolation of m49/, c?9/ synthesis, screening of
?9/ and c?9/ libraries. Mutagenesis) directed and insertional mutagenesis.
Gene targeting, site specific recombination.
U'$t I1:
/pplications of gene cloning) biological, clinical, en"ironmental and industrial
applications. (rotein engineering, biosensers and biochips. Ha@ards of genetic
engineering and impact on society.
SUGGESTE7 /33;S:
,. Genetic engineering principles and practice by Sandhya Mitra
-. Molecular 6iology and 6iotechnology by 7M 3al$er and 4. 4apley
0. Gene cloning and ?9/ analysis by +./. 6rown
2. Human Molecular Genetics by +. Strachan and /.(. 4ead
5. 1rom Genes to clones introduction to gene technology by *L 3innac$er.
8. Molecular 6iology and Genetic *ngineering)(. <. Gupta 4astogi (ublications&
(age 9o. HG.,5
!"#er - ..+: Ge'om$cs "'( !roteom$cs
U'$t I
>ntroduction to genomics, genetic mapping of human chromosomes, mapping of genetic
disease locus to chromosome location, multilocus mapping of human chromosome,
physical mapping of human genome, cloning human disease genes, human genome
proIect.
U'$t II
?9/ seFuencing, bio chips, ?9/ micro arrays, gene annotation, gene structure predictions,
gene ontology consortium recommendations, structural and functional genomics.
U'$t III
(rotein structure and its determination, structural hierarchy, domains, folds, motifs.
Secondary structure prediction methods, fold recognition and homology) comparati"e
modeling of proteins.
U'$t I1
(rotein chip arrays, functional proteomics, doc$ing, rational drug design.
SUGGESTE7 /33;S:
1. Genomics, proteomics and 6ioinformatics
6y Malcolm Campbell and Laurie 7. Heyer
2. *ncyclopedia of Genetics, Genomics, (roteomics and 6ioinformatics
6y Lynn 6. 7orde et al
0. (roteomics .. S. Gomase and 9. 7. Chi$hale Himalaya (ublishing House&
(age 9o. HG.,8

!"#er ..): !<ACTICA= - 1
!"rt A
,. /6H Secretor status
-. M9Ss 6lood groups
0. *L>S/ +est
2. 4adial >mmunodiffusion 4>?&
5. Huantitati"e (recipitin /ssay
8. >mmunoelectrophoresis
!"rt /
( Ass$-'me't )
,. Genetic Councelling methods
-. (renatal screening methods
0. (ostnatal screening methods
2. (atterns of inheritance
5. Councelling for single gene disorders Case studies &
8. Councelling for multifactorial disorders Case studies &
(age 9o. HG.,:
!"#er ..0: !r"ct$c"% 1I
!"rt A
,. (reparation of (lasmids
-. 4estriction digestion and mapping
0. Ligation of ?9/ fragments
2. +ransformation
5. 6acterial cultures
8. 6lotting +echniFuesC
a& Southern
b& 3estern
c& 9orthern
!"rt /?
,. (rimer designing
-. >nsertion deletion polymorphism
0. ?9/ 1inger printing 41L(s and .9+4s
2. /mplification and purification of ?9/ fragments
5. /4MS)(C4
8. Multiple' (C4
:. 9ested (C4
;. ?9/ seFuencing methods
(age 9o. HG.,;
!"#er ..2: A(9"'ce( Hum"' Ge'et$cs
(Optional Paper /Non Core Subject)
A9>+) > C
History and de"elopment of human cytogenetics! Stndardi@ation in human cytogenetics)different
conferences! Morphological "ariability of human chromosomes! <aryotyping.
A9>+) >> C

Drigin and transmission of numerical chromosomal abnormalities classical syndromes&! Structural
chromosomal abnormalities 2p) and 5p)&! Human leucocyte blood culture! Human chromosome
banding techniFues.
A9>+) >>> C
+he concept of bio chemical polymorphism) en@yme and protein polymorphisms) /C(, *S?, H( and
GC! (harmacogenetics) G8(?! Hemoglobinopathies! >n born errors of metabolism) Carbohydrate
and aminoacid metabolisms.
A9>+) >. C
+he immune response 6asic concept! >nnate immune system phagocytes, complement system,
natural $iller cells&! /dapti"e immune system cellular and humoral&! Genetic basis of structure and
di"ersity! /ntibody di"ersity ! MaIor histocompatability comple' class >, >> and >>>&..

Su--este( /oo8sC
,. Human Cytogentics ) 7. L. Hamerton
-. 9ew Chromosomal Syndromes 7.7. %unis
0. Molecular Structure of Human Chromosome 7.7. %unis
2. (rinciples of Human 6iochemical Genetics) H. Harris
5. 6asic >mmunogenetics 1uden 6erg et al.,
(age 9o. HG.,E