title: The SRY-1532 site of the human Y chromosome is subject to recurrent single nucleotide mutations.
abstract: Haplotype determination based on three Y-linked polymorphic sites, 92R7 (C/T), SRY-1532 (A/G), and YAP (-/+), in 127 males belonging to three caste Hindu populations of South India (Vizag Brahmins, Peruru Brahmins, and Kammas) and 13 males belonging to a migrant group (the Siddis) showed the existence of all four haplotypes (CA-, CG-, TG-, and TA-) under the YAP- background. This finding suggests that the reverse mutation (G-->A) at the SRY-1532 site, described earlier in the literature, is present in South Indian populations as well. The YAP+ mutation was seen in only five Siddi individuals. Four of these were of the CG+ haplotype structure, but a novel haplotype (CA+) was found in one male. To explain the occurrence of the six haplotypes found within these three sites, a haplotype tree is constructed that introduces a new reverse mutation at the SRY-1532 site (G-->A), occurring under the CG+ background after the migrant Siddi population arrived in India.
authors.affiliation: Human Genetics Center, University of Texas School of Public Health, Houston 77225, USA.
authors.forename: G
authors.initials: G
authors.lastname: Ramana
authors.forename: L
authors.initials: L
authors.lastname: Singh
authors.forename: R
authors.initials: R
authors.lastname: Chakraborty
mesh_terms: D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012923:Social Class; D014998:Y Chromosome / Q000235:genetics*