Saturday, 5 December 2015

Cystic fibrosis (homozygous) | PGIMER Frequently Asked Medical PG topics


A pt. of cystic fibrosis (homozygous) married a carrier (heterozygous). The chances of developing cystic fibrosis in the offsprings is

A. 50% carriers, 50% affected 
B. 25% carriers, 75% affected 
C. 75% carriers, 25% affected 
D. All are carriers 
E. All are affected




Ans.  A.  50% carriers, 50% affected
• Cystic fibrosis is an autosomal recessive disorder. Imprtant featrure of AR disease: 
- Either sex affected with equalfrequency or severity. 
- Affected person is homozygous or compound heterozygote for a-single gene deftet. 
- Heterczygous carriers of a deft ctive allele are usually clinically normal. 
- Horizontal pattern ofpedigree with a single generation affected. 
• The chance of developing cystic fibrosis in our question is 50%.