10.11.18 Probabilities in Populations Flashcards

1
Q

What are the molecular mechanisms of hemoglobinpathies?

A
  1. Novel property mutations
  2. Loss of function
  3. Heterochronic or ectopic expression
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2
Q

Mutation that confers a novel property on the protein without necessarily altering its normal functions (Sickle Cell Disease)

A

Novel property mechanism

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3
Q

How is SCD genetically passed on?

A

Autosomal recessive

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4
Q

Study of the distribution of alleles in populations and of how the frequency of alleles and genotypes are maintained or changed

A

Population genetics

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5
Q

What is the Hardy-Weinberg Principle (2 equations)?

A

p+q=1

p^2 + 2pq + q^2 =1

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6
Q

What is the Hardy-Weinbergy approximation for carrier frequency?

A

The carrier frequency is about twice the minor allele frequency which twice the square root of prevalence

2pq= 2q

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7
Q

What are the assumptions in Hardy Weinberg Equilibrium?

A
  1. Large population
  2. Random mating
  3. Constant allele frequency
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8
Q

Fluctuations in the frequency of alleles resulting from chance occurrences operating in small populations

A

Genetic drift

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9
Q

Non-random distribution of alleles among the individuals who founded particular subpopulations

A

Founder (bottleneck) effect

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10
Q

What are some examples of non-random mating?

A
  1. Stratification
  2. Assortative mating
  3. Consanguinity
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11
Q

Population that contains a number of subgroups that have remained genetically separate during modern times (AA and White mating)

A

Stratification

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12
Q

Choice of mate because the mate possesses some particular trait (deaf x deaf)

A

Assortive mating

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13
Q

Mating with someone who is related by descent

A

Consanguinity

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14
Q

What are some exceptions to constant allele frequency?

A
  1. Selection against or for alleles
  2. Mutation
  3. Migration
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15
Q

Measure of the number of offspring or affected persons who survive to reproductive age

Minor allele causing death; heterozygote advantage

A

Fitness

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16
Q

introduction of new alleles in a population

17
Q

Mutations associated with a reduction or a complete loss of one or more of the normal function of a protein (Thalassemia)

A

Loss of function

18
Q

More than 200 pathogenic mutations in the HBB gene have been described. This is an example of what?

A

Allelic heterogeneity

19
Q

Inappropriate expression of a gene at an abnormal time or place (Hereditary persistence of fetal Hb)

A

Heterochronic or ectopic gene expression

20
Q

What molecular mechanism does Factor V Leiden illustrate?

A

Gain of function- mutant protein enhanced in normal properties and increases production of normal protein (enhanced thrombin generation – venous thrombosis; persists longer in circulation)

21
Q

Loss of half of the normal activity of a protein; refers to dominant phenotypes

A

Haploinsufficiency

22
Q

Abnormal protein causes an abnormal phenotype by interfering with function of the product of the normal allele (osteogenesis imperfecta)

A

Dominant negative effect

23
Q

Number of different mutant alleles at a single locus

A

Allelic heterogeneity

24
Q

Phenotype can be produced by mutations at two or more different loci

A

Locus heterogeneity

25
At least two cell lines are present that differ in genotype or karyotype
Mosaicism
26
Probability that a gene will have any phenotypic expression
Penetrance
27
One gene has multiple phenotypic effects, particularly when the effects are not obviously related
Pleiotropy
28
Severity of expression of the phenotype, although there is always some degree of expression present
Variable expressivity
29
How is Factor V Leiden inherited? How are thalassemias, SCD inherited? How are blood groups inherited?
Autosomal dominant Autosomal recessive Codominant