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(Embryology) Chapter 3: approaches to development:

developmental genetics
Study online at quizlet.com/_1lag7r
1.

Alleles: Different versions of a gene

27.

2.

Allelic series: Arrangement of severity of abnormal phenotype


brought upon by loss of function

Gynandromorphs: Half male and half female tissue, due to loss


of sex chromosomes at the first cleavage

28.

3.

Autonomous: Mutation only affects the region where the gene is


active

4.

Autosomes: Chromosomes other than sex chromosomes

Haploinsufficiency: Atleast 50% is loss but the rest is enough


to produce an abnormal phenotype, genetically dominant loss of
function, 100% loss of function (homozygous phenotype) 50%
loss of function (heterozygous phenotype)

5.

Balancer chromosomes: Multiple inversions, with recessive


lethal mutation, marker genes

29.

Homeotherms: Mouse, maintains an internal temperature, warm


blooded

6.

Chemical mutagenesis: Technique to create of point mutation in


which a single DNA base is changed to another, sbustitution of
one amino acid to another

30.

Homeotic gene: Genes that influence homeotic mutation,


transcription factors influence mutation, developmental control
gene, states the commitment of cells

7.

Chimera: Embryos made experimentally by cell injection or


aggregation of blastocyst

31.

Homeotic mutation: Conversion of one part to the likeness of


another

8.

Cloned genes: Genes coding sequence is incorporated into a


bacterial plasmid or cloning vector for amplification and
purification - reverse genetics

32.

Homologous recombination: Direct replacement of a gene by a


modified version made in vitro

33.

Loss of function or knockdown: Most common mutation, protein


products of the mutant gene is less active than the wild type,
recessive mutation

34.

Male bird: ZZ
Male drosophila: XO

9.

Constitutive: Gene products that are active all the time

10.

Dicer: Enzyme that cleaves DsRNA to 21-23bp, involve in RNAi,


mRNA destruction

11.

Dimorphic sex chromosomes: Different forms of genetic


combination that dictates sex of an organism

35.
36.

Male mammal: XY

12.

Dominant negative: Genetically dominant, gene products has


no function but interferes with the wild type gene product

37.

Maternal effect: Phenotype of an individual depends on the


genotype of the mother

13.

Dorsal gene: Gene of the drosophila that influences the


production of the ventral development, when lost an all dorsal
animal is produced (loss of function)

38.

Morphlinos: Oligonucleotides replaces sugar phosphate


backbone

39.

Mutants: Organisms carrying a mutation

Enhancer trap: Probe the environment, providing genetic lines


highlighted expressions or markers like B-galactosidase and
green flurescent protein (GFP)

40.

Mutation: Change in genomic DNA

41.

Nanos: Last acting member of the pathway, drosophila

42.

Neutralizing antibody: Against protein production

43.

Non autonomous: The gene is affecting a structure outside its


domain of expression

44.

Nonpermissive: Displays phenotypes, high temperature usually

45.

Null mutation: Complete loss cof function, lack of active gene


products

46.

Paralog: Set of similar genes in the same genome, brought


upon by gene duplication

47.

PCR primers: Enable the visibility of polymorphism, bands on


DNA gel

48.

P-element: Transposable element that causes mutation, probe


to isolate DNA clones in the library

49.

Permissive: Do not display phenotypes, low temperature


usually

50.

Phenotype: Totality of charactheristics of an organism

51.

Pleitropic: Genes with many functions

52.

Poikilothermic organism: Temperature sensitive mutants are


used in C.elegans, Drosphila, and zebra fish, can be subjected
to multiple ranges of temperature, cold blooded, environmentally
influenced

53.

Pole-cell transplantation: Technique in forming a mosaic

54.

Positional cloning: Mutation is mapped in high resolution using


microsatellite polymorphism or restriction fragment length
polymorphism

55.

Pseudoallele: Look like allele also same expression patterns,


not alleles because they occupy specific genetic loci

14.

15.

Epistasic: One genes prevents the expression of anptherb

16.

Epistasis analysis: Study of repressive pathways, or the effect


of one gene to the expression of the other

17.

Female bird: ZW

18.

Female mammal, female drosophila: XX

19.

Forward genetics: Investigationof an interesting mutant


phenotype

20.

Frameshift mutation: Addition or deletion of a single nucleotide,


changing the entire downstream sequence of amino acids in the
protein

21.

Gain of function or overexpression: Dominant mutation, signals


are present all the time regardless of the presence of ligands,
involves constitutive normal gene products, dominant due to the
production of gene products made by the allele on the other
gene other than the wild type

22.

Gal4: Yeast, enhacer trap, zinc-finger class, binds to upstream


activating sequence

23.

Genetic mosaic: Organisms that consists of a mixture of cells


with different genotypes

24.

Genetic strain or genetic line: Subjects to gain or loss of


function experiments to produce many individuals of the same
genotype

25.

Genome: Totality of nuclear DNA in an organism

26.

Genotype: Specific combination of alleles

56.

Redundancy: Partial or complete overlap of gene function

57.

Rescue protocol: When several genes have similar mutant phenotypes, sequences of action and expression

58.

Reverse genetics: Functional investigation of known genes

59.

Sex-linked: Mutations present in sex chromosomes, depenfant on the individuals sex

60.

Spontaneous mutation: Addition, subtraction, deletion or substitution of DNA including the addition of transposable elements

61.

Stella gene: Present in mouse, encodes a chromosmal protein expressed in germ cells and early embryo blastomeres, if knock out the
mother is normal but with fefective embryos

62.

Temperature sensitive mutation: Dependant on temperature, heat causes conformational changes to proteins products

63.

Tetracyclin system: E.coli deoxycyclin addition represses or upregulates expression

64.

Tetraploidization: Doubling of chromosome number

65.

Transgene or knockin: Gene introduced into an organism through transgenesis, has promoters

66.

Trasgenesis: Introduction of a new gene to an organism commonly in the germ line0

67.

White gene: Gene of the drosophila that influence the production of rd eye pigmanet, when lost a white eyed animal is produced (loss of
function)

68.

Wild type: Nomal alllele

69.

X-irridiation: Deletion of a whole stretch of DNA

70.

Zinc finger nucleases: Artificial proteins constrcted uding a judicious selectionof zinc finger type DNA binding domains combined with an
endonuclease