Janka
Forum Senior
Topics: 28
Posts: 146
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compound heterozygous: if a person has two diseased alleles but each carries a DIFFERENT mutation. typical example - CF:
most common mutation in CF is deltaF508.
but there are also many other point mutations that lead to CF.
if a person carries one allele with deltaF508 and one allele with a different CF causing mutation in the CFTR gene, this person is compound heterozygous.
in most cases, these patients show mild symptoms of the disease. in the case of CF, it is often men which are diagnosed with infertility - and then, after all other reasons have been excluded, genetically screened and found to be compound heterozygous. infertility is ONE of the symptoms in CF, but as we all know, not the pathognomonic/ typical symptom. so, these men show a mild expression of the disease, because they are compound heterozygous.
sorry if my english isn't very good, i am only getting started with my exam preparations...
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