chapter 4 part 1 Flashcards

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1
Q

the ways genes interact to influence ____________

A

a phenotype

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2
Q

several important types of gene interactions

A
  • more than 2 alleles for given locus
  • dominance may not be complete
  • 2+ genes may affect single trait
  • expression of trait depends on interaction of 1+ gene with non-genie factors
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3
Q

Mendel chose to examine traits with _______ alternative forms

A

two
- in each case, one form was completely dominant over the other

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4
Q

the terms dominant and recessive have a _____________ basis

A

biological

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5
Q

what is the dominance of one allele over another determined by?

A

protein product of that allele

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6
Q

the overall phenotype is the consequence of what?

A

activities of the protein products of the alleles of the gene

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7
Q

mutant allele recessive to wild type

A
  • wild type R+ produces active enzyme (50 units)
  • mutant allele produces little/no active enzyme (0 units)
  • 40+ units = wild type phenotype
  • R+ + R+ = 100
  • R+ + r = 50
  • r + r = 0
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8
Q

mutant allele dominant to wild type

A
  • allele T1 produced active enzyme (10 units)
  • mutant allele T2 produces less active enzyme (5 units)
  • 18+ units produces wild type
  • only T1T1 (20 units) - wild type
  • heterozygous and homozygous for mutant allele both mutant in phenotype
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9
Q

haplosufficient

A

one copy of wild type allele enough for normal function

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10
Q

haploinsufficient

A

one copy of wild type allele isn’t enough for normal function

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11
Q

when is a wild-type phenotype always produced?

A

when an organisms has 2 copies of wild type allele

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12
Q

2 types of mutant alleles:

A
  1. gain-of-function
  2. loss-of-function
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13
Q

gain-of-function

A

when gene product acquires new function or shows and increased level of wild type activity

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14
Q

loss-of-function

A

when there is a significant decrease or complete loss of functional gene product

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15
Q

2 types of loss-of-function mutations

A
  1. null/amorphic mutation
  2. leaky/hypomorphic mutation
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16
Q

null/amorphic mutation

A

produce no functional protein product
- often lethal when homozygous

17
Q

leaky/hypomorphic mutation

A

partial loss of function
- severity of phenotype depends on level of activity of leaky mutation

18
Q

multimeric proteins

A

composed of 2+ polypeptides that join together to form a functional protein

19
Q

what are multimeric proteins subject to

A

dominant negative mutations

20
Q

why are dominant negative mutations dominant

A

due to loss of function of multimeric protein complex due to amino acid change in one subunit

21
Q

how are dominant negative mutations negative?

A

due to “spoiler effect” on protein as whole

22
Q

are gain-of-functions usually dominant or recessive?

A

dominant

23
Q

types of gain-of-function mutations

A
  1. hypermorphic
  2. neomorphic
24
Q

hypermorphic mutations

A

produce more gene activity than wild type

25
Q

geomorphic mutations

A

acquired novel gene activities not in the wild type

26
Q

incomplete dominance

A
  • dominance of one allele over the other is not complete
  • when heterozygous individuals display intermediate phenotypes between either homozygous type
  • typically, heterozygotę more similar to one of homozygous types than other
27
Q

what allele designations are used in incomplete dominance

A

A1, A2 or B1, B2

28
Q

codominance

A

produces heterozygotes with phenotype different than that of either homozygote

29
Q

how many different types of ABO blood

A

4, results from combination of 3 alleles

30
Q

codominant alleles in blood type

A

IA and IB
- completely dominant over i allele

31
Q

blood type A

A

RBCs have type A antigen on surface
- IAIA or IAi

32
Q

blood type B

A

RBCs have type B antigen on their surface
- IBIB or IBi

33
Q

blood type AB

A

RBCs have both A and B antigens
- IBIA

34
Q

blood type O

A

RBCs have neither A or B antigens
- ii

35
Q

2 blood group antigen composition

A

glycolipids with lipid portion anchored in red blood cell membrane

36
Q

what are blood group antigens based on

A

5 sugar molecules (H antigen), which is then modified by addition of extra (6th) sugar of one type (A) or another (B) or no extra sugar molecule added (O)