Tracing the Indian Population Ancestry by cis-linked Mutations in HBB Gene

BackgroundHuman left their genetic footprints during the time of migration throughout the different countries all over the world. Human evolution was studied through various markers. India is a country of rich heritage and cultural diversity. The modern Indian population is derived from two ancestral groups, viz.-Ancestral North Indians (ANI) and Ancestral South Indians (ASI). AimFinding out the migratory route of the modern Indian population by studying cis acting mutations of human beta-globin (HBB) genes. Subjects and methodsA total of 120 thalassemia subjects were enrolled. DNA sequencing was done for mutation detection in the HBB gene. Some previous literature reviews were gone through for tracing mutations, all over the world and in the Indian subcontinent. ResultsNine thalassemia patients were found where HBB:c.92G>C and HBB:c.-92C>G mutations co-exist together in cis condition. Only one patient had HBB:c.51delC and HBB:c.33C>A. The pedigree analysis confirmed the presence of these mutations in cis condition and vertical transmission from one generation to the next. Literature reviews also reassure the co-existence of these mutations from different countries. ConclusionThe co-existence of these cis acting mutations helps to point out the possible migratory route of ANI population after venturing out of Africa.