Genetic analysis Flashcards

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

A

2/3

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
Q

quantitative variation in humans

A

distributed around mean

26
Q

environmental impact

A

influences phenotypes of gene alleles

27
Q

Genome-wide association studies

A

studies human genetics of complex traits

28
Q

effect of snp

A

particular snp more or less frequent in affected individuals than in unaffected individuals

29
Q

multifactorial traits

A

polygenic and environment plays a role