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Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations
Author(s) -
Ankala Arunkanth,
Tamhankar Parag M.,
Valencia C. Alexander,
Rayam Krishna K.,
Kumar Manisha M.,
Hegde Madhuri R.
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22704
Subject(s) - endogamy , founder effect , biology , consanguinity , population , genetics , caste , genetic testing , genealogy , population genetics , evolutionary biology , demography , sociology , gene , history , haplotype , genotype , political science , law
S outh A sian I ndians represent a sixth of the world's population and are a racially, geographically, and genetically diverse people. Their unique anthropological structure, prevailing caste system, and ancient religious practices have all impacted the genetic composition of most of the current‐day I ndian population. With the evolving socio‐religious and economic activities of the subsects and castes, endogamous and consanguineous marriages became a commonplace. Consequently, the frequency of founder mutations and the burden of heritable genetic disorders rose significantly. Specifically, the incidence of certain autosomal‐recessive disorders is relatively high in select I ndian subpopulations and communities that share common recent ancestry. Although today clinical genetics and molecular diagnostic services are making inroads in I ndia, the high costs associated with the technology and the tests often keep patients from an exact molecular diagnosis, making more customized and tailored tests, such as those interrogating the most common and founder mutations or those that cater to select sects within the population, highly attractive. These tests offer a quick first‐hand affordable diagnostic and carrier screening tool. Here, we provide a comprehensive catalog of known common mutations and founder mutations in the I ndian population and discuss them from a molecular, clinical, and historical perspective.