Chapter 4a: Modification of Mendelian Ratios Flashcards

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1
Q

what are Mendel’s 4 postulates?

A
  1. unit factors exist in pairs
  2. dominance/ recessiveness
  3. paired unit factors segregate
  4. independent assortment
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2
Q

2 things that describe a loss-of-function mutation

A
  1. premature stop codon

2. misshapen active site

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3
Q

2 things that describe a gain-of-function mutation

A
  1. better enzymatic performance

2. gene duplications lead to gene family proliferation

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4
Q

a neutral mutation is AKA

A

a synonymous mutation

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5
Q

when no dominance exists between alleles that is known as

A

variation

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6
Q

an intermediate phenotype is?

A

one that results from a cross between parents with contrasting traits

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7
Q

give an example of an intermediate phenotype

A

R1R2 gives a pink color

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8
Q

what type of dominance describes a trait where neither allele is dominant?

A

incomplete or partial dominance

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9
Q

codominance describes

A

-influence of both alleles that is clearly evident

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10
Q

what are the two forms of glycoproteins that exist

A

M and N

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11
Q

mating between two heterozygous individuals can produce

A

children with all 3 blood types (A, B, AB)

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12
Q

inadequate substrate for enzyme that causes h substance to be incompletely formed is due to a rare mutation in the _____ gene.

A

FUT1

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13
Q

lethal genes represent…

A

essential genes

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14
Q

essential genes are

A
  • absolutely required for survival

- tolerated if heterozygous

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15
Q

what type of mutations result in homozygous recessive individuals that do not survive?

A

recessive lethal alleles

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16
Q

lethal alleles are inherited in a

A

recessive manner

17
Q

the presence of one copy of this type of allele results in death

A

dominant lethal allele

18
Q

Huntington’s disease is an example of a

A

dominant lethal allele

19
Q

combining modes of inheritance modifies the 9:3:3:1 ratio because of

A

product law

20
Q

epigenesis is defined as

A

a progression in the complexity of a phenotype as development increases

21
Q

complex phenotypes come from…

A

undifferentiated cells

22
Q

epistasis is when the…

A

expression of one gene masks/modifies effect of another gene pair

23
Q

in epistasis a gene masks the

A

phenotypic effects of another gene

24
Q

effects of epistasis can be inferred if

A
  • inheritance is discontinuous
  • genes are not linked
  • complete dominance exists
  • all P1 crosses involving homozygotes/ F1 are heterozygous
  • F2 is focus of analysis
25
Q

complementation analyses allows one to determine if

A

two mutations with a similar phenotype are different alleles of the same locus

26
Q

two characteristics of complementation analysis

A
  1. screens number of individual mutations resulting in the same phenotype
  2. can predict the total number of genes determining a trait
27
Q

a complementation group shows..

A

all mutations present in any single gene

28
Q

complementation analyses is what type of genetic study?

A

a special form of test cross

29
Q

define pleiotropy…

A

the expression of a single gene that has multiple phenotypic effects

30
Q

give an example of pleiotropy

A

marfan syndrome

-affects eyes, aorta, bones, and other tissues that use fibrillin