title: Clinical applications and implications of common and founder mutations in Indian subpopulations.
abstract: South Asian Indians 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 Indian 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 Indian subpopulations and communities that share common recent ancestry. Although today clinical genetics and molecular diagnostic services are making inroads in India, 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 Indian population and discuss them from a molecular, clinical, and historical perspective.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Arunkanth
authors.initials: A
authors.lastname: Ankala
authors.forename: Parag M
authors.initials: PM
authors.lastname: Tamhankar
authors.forename: C Alexander
authors.initials: CA
authors.lastname: Valencia
authors.forename: Krishna K
authors.initials: KK
authors.lastname: Rayam
authors.forename: Manisha M
authors.initials: MM
authors.lastname: Kumar
authors.forename: Madhuri R
authors.initials: MR
authors.lastname: Hegde
mesh_terms: D004194:Disease / Q000235:genetics*; D018703:Founder Effect; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D005828:Genetics, Population; D006801:Humans; D007194:India; D059645:Mutation Rate; D012959:Socioeconomic Factors; D044465:White People / Q000235:genetics*
keywords: India; clinical genetics; common variants; founder mutations; molecular testing