Haplotype determination based on three Y -linked polymorphic sites, 92R7 (Crr), SRY-1532 (AJG), 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 lrugrant 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 Qccunence of the six baplotypes found within these three sites, a haplotype tree is constructed that introduces a new reverse mutation at the SRY -1532 site (G -)0 A), occuning under the CG + background after the migrant Siddi population arrived in India.
Ramana, Gutala; Singh, Lalji; and Chakraborty, Ranajit
"The SRY-1532 Site of the Human Y Chromosome Is Subject to Recurrent Single Nucleotide Mutations,"
1, Article 4.
Available at: https://digitalcommons.wayne.edu/humbiol/vol73/iss1/4