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PoD > Estimating Risk of Inherited Genetic Diseases > Flashcards

Estimating Risk of Inherited Genetic Diseases Flashcards

1
Q

Define fitness

A

The ability of organisms to survive (long enough) to pass on their genes

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2
Q

How do neural alleles affect fitness?

A

Don’t at all

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3
Q

How do deleterious alleles affect fitness?

A

Sometimes decrease

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4
Q

How do advantageous alleles affect fitness?

A

Rarely increase

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5
Q

Name recessive diseases

A

Sickle cell and Thalassaemia

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6
Q

What can mutations in dominant and X-linked genes arise?

A

Inherited or de novo (new)

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7
Q

When are De Node mutations common?

A

In dominant disorders especially were disease reduces reproductive fitness - 1/3 Lethal X-L diseases

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8
Q

alleles in people with genotypes: 400AA + 150Aa + 100aa

A

A - 950
a - 350

total = 1300

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9
Q

Frequency of A (p) + Frequency of a (f) = ?

A

1

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10
Q

How to determine frequency of allele frequency?

A

Sum of type of allele (A or a) divided by number of total alleles (A+a)

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11
Q

How to determine frequency of genotype?

A

Number of people for genotype (AA/Aa/aa) divided by number of people

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12
Q

What is the ratio in terms of p and q for a punnet square of genotypes Aa and Aa?

A

AA : Aa : aa = p2 : 2pq : q2

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13
Q

What is the constant relative frequency?

A

p : q

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14
Q

What is the allele frequency for A from punnet square?

A

2p2+2pq

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15
Q

What is the allele frequency for a from punnet square?

A

2q2+2pq

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16
Q

Do dominant conditions become more common at the expense of recessive ones?

A

No

17
Q

What are two principle of HWE?

A
  • Allele frequencies remain constant between generations

- Relative proportion of genotypic frequencies remain constant between generations

18
Q

What will the allele frequency be no matter what in HWE?

A

1

19
Q

Should mutation in ignored in an ideal population?

A

Yes

20
Q

Should migration occur in ideal population?

A

No so that there is no gene flow

21
Q

Should mating be random in an ideal population?

A

Yes

22
Q

Should there be a selective pressure in an ideal population?

A

No

23
Q

Should the population be big or small in an ideal population?

A

Large

24
Q

In ideal population, are allele frequencies equal or unequal in the sexes?

A

Equal

25
Q

What is the relationship between mutations and alleles?

A

Mutation increase the proportion of new alleles

26
Q

How do new gene frequencies in hybrid populations?

A

Introduction of new alleles due to migration or intermarriage

27
Q

How does non-random mating affect proportion of homozygotes?

A

Leads to increase in mutant alleles and thus number of homozygotes

28
Q

Define assortative mating

A

Choosing partners due to shared characteristics - i.e. deafness & sign language

29
Q

Define consanguinity

A

Marriage between close blood relatives

30
Q

What is natural selection?

A

A gradual process where biological traits become either more or less common in a population

31
Q

Affect of negative selection

A
  • Reduces reproductive fitness
  • Decreases prevalence of traits
  • Leads to gradual eduction of mutant alleles
32
Q

Affect of positive selection

A
  • Increases reproductive fitness
  • Increases the prevalence of adaptive traits
  • Heterozygote advantage
33
Q

What are the advantages of being heterozygous?

A

Can be carrier of recessive disorder and have resistance against other diseases

  • Sicke cell - malaria
  • Thalassaemia - malaria
  • CF - cholera/typhoid
34
Q

What occurs in small populations?

A

Exhibit genetic drift and cause founder effect

35
Q

Define genetic drift

A

Random fluctuation of one allele transmitted to high proportion of offspring by chance

Mutations are widespread and neutral

Statistical drift of gene frequencies due to chance or random events rather than natural selection in the formation of successive generations

36
Q

Define founder effect

A

The reduction in genetic variation that results when a small subset of a large population is used to establish a new colony - new population by few members of original population

PoD (35 decks)

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