Chapter 4a: Modification of Mendelian Ratios Flashcards

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
complementation analyses allows one to determine if
two mutations with a similar phenotype are different alleles of the same locus
26
two characteristics of complementation analysis
1. screens number of individual mutations resulting in the same phenotype 2. can predict the total number of genes determining a trait
27
a complementation group shows..
all mutations present in any single gene
28
complementation analyses is what type of genetic study?
a special form of test cross
29
define pleiotropy...
the expression of a single gene that has multiple phenotypic effects
30
give an example of pleiotropy
marfan syndrome -affects eyes, aorta, bones, and other tissues that use fibrillin