PATHOLOGY

Detailed explanation-1: -A carrier, as related to genetics, is an individual who “carries” and can pass on to its offspring a genomic variant (allele) associated with a disease (or trait) that is inherited in an autosomal recessive or sex-linked manner, and who does not show symptoms of that disease (or features of that trait).

Detailed explanation-2: -The parents of a child with an autosomal recessive condition usually do not have the condition. Unaffected parents are called carriers because they each carry one copy of the mutated gene and can pass it to their children.

Detailed explanation-3: -One or both of the genes in a pair can carry a mutation and fail to function properly. In an autosomal recessive condition, both chromosomes in a pair must have a mutation for the person to have the disease. If only one gene carries a mutation, the person is a carrier of the condition but does not have any symptoms.

Detailed explanation-4: -Only individuals with an aa genotype will express a recessive trait; therefore, offspring must receive one recessive allele from each parent to exhibit a recessive trait.

Detailed explanation-5: -To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene.