Type 1 Gaucher disease is a rare disorder resulting from not having enough glucocerebrosidase, an important enzyme that breaks down a fatty chemical called glucocerebroside. It is caused by an autosomal recessive allele and the disease is most common in population groups in which consanguineous marriage is not unusual. A woman is married to her first cousin, and the couple is planning to have a child, but discovers that their shared grandmotherâs brother suffered from type 1 Gaucher disease (assume others in the family donât have Type 1 Gaucher disease).
1. Draw the relevant parts of the pedigree (starting from the coupleâs shared great grandparents).
2. What is the probability that the coupleâs first child will have Type 1 Gaucher disease, assuming that all people who marry into the family are homozygous for the normal allele?
3. If the coupleâs first child turns out to have type 1 Gaucher disease but the second child does not have it, what is the probability that their second child is a carrier?
Type 1 Gaucher disease is a rare disorder resulting from not having enough glucocerebrosidase, an important enzyme that breaks down a fatty chemical called glucocerebroside. It is caused by an autosomal recessive allele and the disease is most common in population groups in which consanguineous marriage is not unusual. A woman is married to her first cousin, and the couple is planning to have a child, but discovers that their shared grandmotherâs brother suffered from type 1 Gaucher disease (assume others in the family donât have Type 1 Gaucher disease).
1. Draw the relevant parts of the pedigree (starting from the coupleâs shared great grandparents).
2. What is the probability that the coupleâs first child will have Type 1 Gaucher disease, assuming that all people who marry into the family are homozygous for the normal allele?
3. If the coupleâs first child turns out to have type 1 Gaucher disease but the second child does not have it, what is the probability that their second child is a carrier?
