Genetic deafness in Pakistani population

The consanguineous marriage pattern has significant implication for increased rate of recessive genetic disorders. High rate of consanguinity in any population along with other factors such as religion, ethnicity, language and geography, usually lead to create genetically isolated groups in which typically confined, well-documented, extended and multigenerational pedigrees with several cases of rare diseases are expected. The extended pedigrees were readily used by geneticists for their linkage studies and for mapping many monogenic autosomal recessive disorders. In this regard, various isolated populations such as the Pakistani population and certain other communities have played prominent role in identifying the novel mutations in these autosomal recessive genetic disorders.