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Organismal Genetics > vocab > Flashcards

vocab Flashcards

1
Q

penetrance

A

the P that disease will appear in an individual when disease allele is present

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2
Q

pleiotropy

A

one gene has many functions

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3
Q

maternal effect

A

mother’s genotype determines offspring’s phenotype rather than offspring’s genotye

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4
Q

allelic series

A

collections of variants that lead to a gradation of possible phenotypes
or
a wild type allele and all the mutant alleles of a gene that appear in a real population

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5
Q

heterogeneity

A

different mutations - same phenotype

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6
Q

allelic heterogeneity

A

mutations in same gene

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7
Q

locus heterogeneity

A

mutations in different gene

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8
Q

expressivity

A

range of symptoms that are possible

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9
Q

haplotype

A

combination of alleles present on same chromosome homolog

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10
Q

polygenic disease

A

multiple genes cause disease through combined action of disease alleles

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11
Q

quantitative trait loci

A

genes with major contributions to phenotype

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12
Q

transgenic rescue

A

add wild type allele to mutatnt phenotype disappear

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13
Q

knock-in

A

generate same sequence change in wild type mice and induce same phenotype

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14
Q

epigenetics

A

the study of heritable changes that occur without a modification in DNA sequence of the genes

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15
Q

canonical imprinting event

A

parent-of-origin specific DNA methylation - primary imprint marker that directly or indirectly controls most imprinted genes

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16
Q

complementation test

A

cross mutants to each other to see if they are in the same gene or different genes

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17
Q

loss of function mutation

A

mutation production of no or less proteins or a protein with reduced or no activity

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18
Q

gain of function mutation

A

mutation production of more proteins or an extended expression pattern (new time and or place), or a protein with an increased activity or new function

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19
Q

amorph

A

deletion / none

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20
Q

hypomorph

A

reduced function

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21
Q

antimorph

A

antagonistic (but LOF morph)

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22
Q

hypermorph

A

increased function

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23
Q

neomorph

A

novel

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24
Q

exons

A

coding regions

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25
Q

introns

A

non coding regions

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26
Q

COI

A

construct of interest

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27
Q

transgene

A

exogenous gene added into experimental system that can be expressed under its own promoter or a different promoter

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28
Q

knock out

A

delete a gene/promoter or a critical portion of it

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29
Q

knock down

A

delete a small portion of gene / promoter

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29
Q

knock in

A

add construct to genome

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29
Q

knock down marker

A

replaces a small part of the gene / promoter

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29
Q

knock out marker

A

replaces all or a great part of the endogenous gene / promoter

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30
Q

knock in marker

A

DNA is fused to a marker

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30
Q

HDR

A

homology directed repair

31
Q

phenocopy effects

A

effects comparable to mutant phenotypes but not due to mutations

32
Q

phenocopy

A

environmental induced - non heriditary phenotype (identical to genotype determined phenotype of another individual)

33
Q

haploinsufficiency

A

dominant phenotype in diploid organism that are heterozygous for LOF allele

34
Q

heteroallelic combination

A

presence of two different mutant alleles at the same locus

35
Q

epistasis

A

one mutation masks the phenotype of the other mutation

36
Q

mutations arise by

A

deficiencies of gene through loss of chromosome region or at breakpoints of inversions or translocations

37
Q

balancer chromosomes

A

keep homozygous lethal or sterile mutations from being lost in a population (they are homozyous too and have a marker)

38
Q

saturated genetic screen

A

uncover every gene that is involved in a particular phenotype in a given species

39
Q

synergistic enhancement

A

more than addition of two phenotypes

40
Q

universally conserved genes

A

those that can be found in all organisms

41
Q

synteny

A

conservation of blocks of order within two sets of chromosomes that are being compared with each other
or
preserved order of genes on chromosomes of related species which results from descent from common ancester

42
Q

fitness

A

probable genetic contribution of an individual to succeeding generations

43
Q

oligos

A

oligonucleotides - short single strands of synthetic DNA or RNA

44
Q

dominance

A

manifestation of how the alleles of a single gene interact in the heterozygote

45
Q

haplosufficient

A

one copy of the wild type allele (P) is enough to carry out the function

46
Q

auxotrophic mutants

A

cannot syntehsize cellular components from inorganic nutrients - complex nutrients need to be supplied in order for the cell to grow

47
Q

suppressor

A

mutant allele of a gene that reverses the effect of a mutation in another gene

48
Q

hypostatic

A

the overriden mutation in epistatic interactions

49
Q

negative/antagonistic epistasis

A

Occurs when the two-locus epistatic interaction provides a combined fitness that is smaller than the simple sum of each of their own

50
Q

positive/synergistic epistasis

A

Occurs when the two-locus epistatic interaction enhance the fitness of the individual more than the simple sum of each of their own

51
Q

synthetic lethality

A

two genes have a synthetic lethal relationship if mutants in either gene are viable but the double mutation is lethal

52
Q

complementation test

A

checking if mutants are at the same allelic locus

53
Q

Tandem duplications

A

: duplicated regions are located adjacent to each other

54
Q

Insertional duplication

A

extra copies are located somewhere else in the genome

55
Q

Segmental duplications

A

: big duplication units ranging from 10 to 50kB - most of this duplication are dispersed but some may be in tandem

56
Q

duplication loop (meiosis)

A

failure of pairing between the normal segment of chromosome and its corresponding homolog duplicated segment

57
Q

CNV

A

copy number variation - human differs in the number of copies of parts of individual genes, whole genes, or gene clusters

58
Q

orthologs

A

genes inherited from a common ancester (same locus, different species)

59
Q

paralogs

A

genes arose from duplication events - at different genetic loci in the same organism

60
Q

macrosynteny

A

larger ranges relationships

61
Q

microsynteny

A

metabolic clusters of similarity

62
Q

genetic redundancy

A

implies that two or more genes carry out the same biological function and that a mutation in one of these genes has little or not effect on the overall phenotype - since the other would function as a back up copy

63
Q

neo-functionalization

A

when a gene acquires a new function after a gene duplication event

64
Q

subfunctionalization

A

neutral mutation process in which each paralog retains a subset of its original ancestral function

65
Q

Aneuploidy

A

: changes in parts of chromosome set

66
Q

Euploidy (aberrant)

A

: organisms that have multiples of the normal chromosome set

67
Q

nullisomy
monosomy
disomy
trisomy

A

2n-2
2n-1
n+1
2n+1

68
Q

Gene balance

A

: the majority of proteins function in complexes

69
Q

ways chromosomal structure can be altered (4)

A

deletion
duplication
inversion
translocation

70
Q

paracentric inversions

A

do not involve the centromere (switch i think - like BC is normal, CB = paracentric)

71
Q

pericentric inversions

A

involve the centromere

72
Q

Intragenic deletion:

A

small deletions within a gene
Usually inactivate the gene and have same effects than other null mutations

73
Q

Multigenic deletions:

A

several genes are missing
More severe consequences: even heterozygote for such deletions may not survive

74
Q

Psuedodominance :

A

recessive alleles seem to show dominance bc of deletion of dominant alleles

75
Q

Deletions in meiosis :

A

failure of pairing between the normal segment of chromosome and its corresponding homolog deleted segment
deletion loop

76
Q

Autopolyploidy:

A

multiple chromosome sets originated from same species - intraspecific

77
Q

Allopolyploidy:

A

multiple chromosome sets originated from different species - ineterspecific

78
Q

Cell non-autonomous :

A

gene product is not required in cells in which it is expressed

79
Q

Cell autonomous :

A

gene product is required in cells in which it is expressed

Organismal Genetics (1 decks)

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