Authors: Komal Uppal , Akansha Bisht , Sunil Kumar Polipalli

Abstract

Consanguineous marriages, defined as unions between biologically related individuals, are associated with an increased risk of autosomal recessive genetic disorders because relatives are more likely to share deleterious alleles inherited from a common ancestor. In contrast, Gotra exogamy in Hindu societies is a socio-cultural practice that discourages marriage within the same paternal lineage, whereas endogamy refers to marriage within a defined social or population group. Although Gotra exogamy may have historically limited certain forms of relatedness, its genetic implications remain indirect and culturally interpreted rather than scientifically established. Population genetic studies in India indicate that consanguinity and long-standing endogamy contribute to an increased prevalence of inherited disorders, estimated at 25–60 per 1000 births in some communities, depending on regional, socioeconomic, and cultural factors. These risks are primarily attributable to autosomal recessive inheritance resulting from increased carrier overlap among related individuals.

This narrative review examines the relationships among Gotra exogamy, consanguinity, endogamy, and genetic disease risk from sociocultural, genetic, and public health perspectives through a structured review of published literature. The review highlights the importance of culturally sensitive genetic counseling, carrier screening, and community awareness programs in identifying at-risk families and reducing the burden of inherited disorders while respecting cultural traditions and promoting scientific literacy.

Keywords: Consanguineous Marriages, Genetic Counseling, Gotra.