Mendelian pattern

Question 1

Vocab for multiple forms of a gene in population

Answer 1

polymorphism

Question 2

Vocab for probability that the offspring of a couple will express the genetic disorder

Answer 2

Recurrence risk

Question 3

the person who approaches a physician for a consultation

Answer 3

consultand

Question 4

Affected individual in the family who gains the attention of physician

Answer 4

Proband

Question 5

What is Pseudo-autosomal dominant

Answer 5

autosomal recessive condition present in individuals in two or more generations of a family that foolow dominant inheritance pattern due to crossing of heterozygote and homozygote of autosomal recessive disorder

Question 6

Factors that can increase insidence of autosomal recessive trait (pseudu-autosomal dominant)

Answer 6

1. Consanguinity
2. Heterozygote advantage
3. Genetic isolation (geographic, religious, cultural-Asian population in UK)
4. Assortative mating (like marring like, eg. hearing impaired individuals)

Question 7

What does heterozygote advantage mean?

Answer 7

Having heterozygote gene is more advantageous than having homozygous gene.

Question 8

3 disease that shows heterozygote advantage

Answer 8

1. Sickle cell anemia
2. CF
3. Hemochromatosis