PATHOLOGY

Detailed explanation-1: -Most genetic disorders that result in sterility or childhood death are caused by recessive mutations, DNA sequence variants that are harmless when a person carries only one copy.

Detailed explanation-2: -In single-gene diseases, a mutation in just one of these genes is responsible for disease. Single-gene diseases run in families and can be dominant or recessive, and autosomal or sex-linked.

Detailed explanation-3: -Autosomal Recessive Disorder. The key thing about recessive disorders is that we all have two copies of every gene: one from mom, one from dad. For some, but not all genes, you really only need one working copy, and so it’s only when both copies don’t work that problems can occur.

Detailed explanation-4: -Cystic fibrosis (CF) Cystic fibrosis is one of the most common inherited single gene disorders in Caucasians. Sickle cell anemia (SC) Tay Sachs disease.