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Chance of having CF

Question
If one person has a standard risk of 1 in 32 to have CF and his partner is a carrier, how much chance is there that these two people will have a child with CF?
Answer
Cystic fibrosis is caused by mutations (errors) in the CFTR gene. Every individual has 2 CFTR genes, one is inherited via the father, the other one via the mother. Individuals who have a CFTR mutation on just one of their CFTR genes are called carriers. Carrier frequency in the white population is indeed about 1 in 32. The chance that a possible carrier will give his mutant CFTR to his child is 1 in 2: the standard risk of giving a mutant CFTR gene to your ofspring is thus 1/32 *1/2. If the partner is a known carrier then the chance of giving his mutant CFTR gene to his child will be 1/2. Thus the combined chance that a child will inherit CF from these people will be 1/32 x ½ x ½ which equals 1/128.
K. De Boeck, H. Cuppens
16.02.2009