EXTENSION OF MENDELIAN INHERITANCE(lesson 1) genetics Flashcards

1
Q

Prevalent alleles in a
natural population.

A

Wild-type alleles

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2
Q

more than one
wild-type allele may occur

A

Genetic polymorphism-

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3
Q

promote the
reproductive success of organisms in
their native environments.

A

Wild-type alleles

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4
Q

random mutations occur
in populations and alter preexisting
alleles. Called as such to distinguish
them from the more common wild-type
alleles

A

Mutant alleles-

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5
Q

usually cause a substantial decrease in the
expression of a functional protein supported by the analysis of many human genetic diseases.

A

Recessive mutant alleles

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6
Q
  • much less common than recessive
    mutant alleles.
A

Dominant mutant allele

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7
Q

is usually caused by a mutant
allele.

A

genetic disease

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8
Q

Three explanations account for most dominant mutant
alleles:

A

Gain-of-function mutation
* Dominant-negative mutation
* Haploinsufficiency.

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9
Q

*Change the gene or the protein encoded by a gene
so it gains a new or abnormal function.

A

Gain-of-function mutation

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10
Q

*Change a protein such that the mutant protein acts
antagonistically to the normal protein.

A

Dominant-negative mutations

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11
Q

The dominant mutant allele is a loss-of-function
allele.

A

Haploinsufficiency

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12
Q

used to describe patterns of
inheritance in which a heterozygote

  • An example in humans is polydactyly.
A

Haploinsufficiency

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13
Q

which an allele that is expected to cause
a particular phenotype does not.

A

INCOMPLETE PENETRANCE

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14
Q

Human pedigree for a dominant trait
known as

A

polydactyly

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15
Q

due to an autosomal
dominant allele—

A

Polydactyly

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16
Q

a single copy of this
allele is sufficient to cause this
condition.

A

autosomal
dominant allele

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17
Q

term used to describe the outcome of traits is
the degree to which the trait is expressed

A

Expressivity-

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18
Q

often due to environmental
influences and/or due to effects of modifier genes

A

INCOMPLETE PENETRANCE

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19
Q

The
phenotypic effects are dependent on
the temperature

A

Temperature-sensitive allele.

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20
Q

caused by a defect in
a gene that encodes the enzyme
phenylalanine hydroxylase.

A

Phenylketonuria (PKU)

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21
Q

which is found in most protein-rich
foods,

A

phenylalanine,

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22
Q

A condition in which the phenotype is
intermediate between the corresponding
homozygous individuals.

A

INCOMPLETE DOMINANCE

23
Q

German botanist ____ first
observed this phenomenon in the color of the
flowers of the four-o’clock plant (Mirabilis
jalapa)

A

Carl Correns

24
Q

lack of
a functional protein required for pigmentation.

A

Heterozygote Advantage/ OVERDOMINANCE

25
which the affected individual produces an altered form of the protein hemoglobin, which carries oxygen within red blood cells.
Sickle cell disease-
26
This causes their red blood cells to deform into a
sickle shape under conditions of low oxygen concentration
27
Individuals affected with sickle cell disease are
homozygous for the HbS allele
28
high frequency among human populations that are exposed to malaria.
OVERDOMINANCE
29
spends part of its life cycle within the Anopheles mosquito and another part within the red blood cells of humans who have been bitten by an infected mosquito.
malaria, Plasmodium,
30
, are likely to rupture when infected by this parasite, thereby preventing the parasite from propagating.
HbA HbS
31
two alleles are both expressed in the heterozygous individual
CODOMINANCE
32
when a gene is located on the X chromosome but not on the Y chromosome.
X-linked inheritance
33
to indicate that males have a single copy of an X-linked gene
Hemizygous
34
is that males are more likely to be affected by rare, recessive X-linked disorders.
X-linked inheritance
35
X-linked recessive, the allele causing the disease is recessive and located on the X chromosome
Duchenne muscular dystrophy-
36
refers to a gene that is found on one of the two types of sex chromosomes but not on both.
Sex-linked gene-
37
relatively few genes are located only on the Y chromosome.
Holandric genes
38
found in mammals.
SRY gene
39
Its expression is necessary for proper male development.
SRY gene
40
which an allele is dominant in one sex but recessive in the opposite sex.
Sex-influenced inheritance-
41
controlled by sex hormones or by the pathway that leads to male and female development
Sex-limited inheritance-
42
The genes that affect sex-limited traits maybe
autosomal or X-linked
43
are the presence of ovaries in females and the presence of testes in males.
sex-limited traits
44
which members of the opposite sex have different morphological features.
Sexual dimorphism
45
has the potential to cause the death of an organism.
LETHAL ALLELES
46
one that must be present for survival
Essential gene-
47
not absolutely required for survival, although they are likely to be beneficial to the organism.
Nonessential genes-
48
some lethal alleles may kill an organism only when certain environmental conditions prevail
Conditional lethal alleles-
49
conditional lethal alleles cause an organism to die only in a particular temperature range.
Temperature-sensitive (ts) lethal alleles-
50
may also be identified when an individual is exposed to a particular agent in the environment.
lethal alleles-
51
People with a defect in the gene that encodes the ____ have a negative reaction to the ingestion of ____.
enzyme glucose-6-phosphate dehydrogenase (G-6-PD) fava beans
52
lethal alleles act only in some individuals.
Semilethal alleles-
53
multiple effects of a single gene
PLEIOTROPY
54
all traits are affected by the contributions of many genes.
GENE INTERACTIONS