GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages

In 1020 males out of 13 population samples from Argentina, Brazil, Costa Rica, Macao, Mozambique, Portugal and Spain, GATA allele 17 was found exclusively in Mozambique [Forensic Sci. Int. 135 (2003) 158]. In the present work, allele 17 was further observed in samples from Angola (9.33%), Mozambique (10.79%) and S. Tome´ e Prı´ncipe (3.53%). This allele differs by at least two repeat units from all reported alleles: no instance of allele 18 was ever found. Allele 17 frequency and distribution, together with the absence of one-step-derived alleles, is compatible with a very low mutation rate and so potentially a good marker for African ancestry and haplogroup identification. We verified this hypothesis in two ways: (a) the sequencing of nine alleles 17 showed that the small number of uninterrupted repeats can explain the low mutation rate and (b) the simultaneous GATA C4 and SNP typing in 75 individuals from Angola, 85 from S. Tome´ e Prı´ncipe and 417 from Mozambique proved that, out of 56 samples carrying allele 17, 55 belong to B* paragroup and one to A*, both said to be ancient African lineages. Therefore, GATA C4 allele 17 most probably was originated as a unique event and its extreme association with AB* is compatible with its use as a marker for the assignment to this paragroup. [Copyright &y& Elsevier]