Genetic analysis Flashcards

(29 cards)

1
Q

law of segregationn

A

two alleles for each gene separate during gamete formation

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2
Q

law of independent assortment

A

alleles of genes on nonhomologous chromosomes assort independently during gametes

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3
Q

different alleles of the same gene always

A

segregate independently during meiosis

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4
Q

phenomenon of independent assortment reflects the behavior

A

alleles of genes that are located on different chromosomes

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5
Q

Gene

A

the DNA sequence required to synthesize a product important for the function of a cell

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6
Q

Allele

A

A copy of a gene. Diploids have two alleles of each gene. These alleles can be the same or different

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7
Q

Variant

A

a specific version of the DNA of a gene

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8
Q

locus

A

The physical location on the chromosomes of a gene.

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9
Q

How many locus do each gene have in a diploid genome?

A

one

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10
Q

null mutation

A

no protein made at all

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11
Q

weak mutation

A

encoded mutated protein works but not as well

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12
Q

conditional mutation

A

under some condition, the mutated encoded protein doesn’t work when the wild type protein does

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13
Q

gain-of-function mutation

A

encoded protein works differently and more than wild type (always on)

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14
Q

Why are alleles recessive?

A

usually because they are loss of function mutations

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15
Q

What is the phenotype of heterozygote of?

A

functional protein

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16
Q

Tyrosinase

A

catalyzes the first step in melanin production

17
Q

Example of conditional allele in tyrosinase gene

A

temperature-sensitive mutation

18
Q

temperature sensitive mutation

A

different colors concentrated on certain body parts away from heat

19
Q

incomplete dominance

A

occurs when 50% of gene product is not sufficient full function

20
Q

co-dominance

A

both alleles are visible

21
Q

3/4 of the progeny of the F2 progeny of a plant heterozygous for the P (purple) and p (white) alleles have purple flowers. What fraction of the purple plants will produce progeny with white flowers by a self cross

22
Q

epistasis

A

two unlinked loci(genes) ‘interact’

23
Q

Summarize epistasis

A

mutation at one locus/gene influences a second locus/gene

24
Q

Name human diseases whose genetic contribution is polygenic (5)

A
  1. hypertension
  2. Type 1 and 2 diabetes
  3. schizophrenia
  4. inflammatory bowel disease
  5. asthma
25
quantitative variation in humans
distributed around mean
26
environmental impact
influences phenotypes of gene alleles
27
Genome-wide association studies
studies human genetics of complex traits
28
effect of snp
particular snp more or less frequent in affected individuals than in unaffected individuals
29
multifactorial traits
polygenic and environment plays a role