Individual II:1 are affected by an inborn error of metabolism which the disease incidence occurs in 1 in 2500 in the population.

II:3 is not a blood relative and has no family history of the disease.

What is the probability that III:2 will be affected?

Individual III:1 and III:3 are affected by Disease A, an inborn error of metabolism with an autosomal recessive inheritance pattern. 

What is the probability to have an affected child if IV:4 marries III:8?

Individual IV:4  was referred for genetic counselling because several individuals in her family are affected with Disease B.

Based on the likely inheritance pattern, what is the probability of IV:4 being affected if the penetrance rate is 60%?

The healthy sister of someone with Mucopolysaccharidosis Type III (MPS III), an autosomal recessive disease wishes to know the probability that her first child will be affected.

This woman’s healthy partner is not a blood relative and has no family history of MPS III in which the carrier frequency of MPS III in the population is 1 in 30.

What is the probability that their first child will have MPS III?

1.      Which of the following factors does not effecting the Hardy-Weinberg equilibrium?

Noninvasive prenatal testing (NIPT) is most often used to look for chromosomal disorders that are caused by the presence of aneuploidy of a chromosome. 

The incidence of X-linked disorder, Hemophilia A occurs in approximately 1 in 50 male births in Population A*.

What is the frequency of carrier females in this population?

*The population is in Hardy-Weinberg equilibrium.

The incidence of autosomal recessive disorder, Cystic Fibrosis occurs in 1 in 1600 in Population B*. What is the frequency of carrier in this population?

*The population is in Hardy-Weinberg equilibrium.

In population C*, 4% of individuals show the homozygous recessive trait for green eyes.

What is the value of p in this population?

*The population is in Hardy-Weinberg equilibrium.

PGT-M is a technique use to screen embryos with aneuploidy.