Genetic Diseases Quiz

Question 1

A couple have three offspring, one child with an autosomal dominant disease trait and two who are unaffected. The father is affected by the autosomal dominant disease, but the mother does not have the disease gene. What is the recurrence risk of his autosomal dom disease for their next child

Answer 1

50%

Aa and aa

Question 2

A couple has 3 offspring, one child with an autosomal recessive disease and two who are unaffected. Both parents are carriers for the disease gen. What is the recurrence risk of this autosomal dominant disease for their next child?

Answer 2

25%

Aa and Aa

AA, Aa, aA, (aa)

Question 3

Which of the following are accurate characteristics of an autosomal recessive disease?

Answer 3

The disease tends to cluster in siblings

In the absence of a spontaneous mutation, autosomal recessive disease occur when two individuals who are carriers for the disease gene mate and produce offspring. Every time this course has another child, the risk of expressing the disease is 25%

Question 4

Cystic fibrosis is caused by an ______ gene mutation

Answer 4

Autosomal recessive

Cystic fibrosis is the most prevalent autosomal recessive disorder

Question 5

Which of the following are characteristics of X-linked recessive disease is false?

Answer 5

Females never develop X-linked recessive disease

Question 6

Males express disease more frequently than females with X-linked recessive gene mutations

Answer 6

True

Only way a woman can get the disease is if there mother is an X’X’ and the father has the disease X’Y

Question 7

A boy with duchenne muscular dystrophy likely inherited the disease gene from his mother

Answer 7

True

It’s an X-linked gene

Question 8

The vast majority of conceptions with chromosomal mutations survive to birth because they are generally not that serous

Answer 8

False

Chromosomal mutations occur in 1 out of 12 conceptions. However the majority of these fetuses do not survive

Question 9

The most common cause of Down syndrome is

Answer 9

Maternal chromosome nondisjunction

Down syndrome is a trisomy that occurs in the 21st chromosomes fail to separate during the first stage of cell division in the female ovum.

Question 10

In addition to developmental delays and intellectual disabilities common characteristics associated with Down syndrome include which of the following?

Answer 10

Premature again
Increased risk for leukemia
Congenital heart failure