Complex polymorphisms are revealed by Y chromosome probe 49a with BglII, HindIII, PstI and SstI

Y chromosome probe 49a detects complex polymorphisms with BglII, HindII, PstI and SsTI, involving 19, 13, 18 and 11 variant bands respectively. The haplotype, a description of the arrangement of fragments in an individual, exhibits great variation. Most haplotypes are population-specific and occur infrequently. In a study of approximately 60 individuals of Caucasoid, Negroid and San origin, 21, 23, 28 and 24 haplotypes were revealed by BglII, HindIII, PstI and SstI respectively. Reduced genetic diversity in the Negroid population was ascribed to both the proposed recent common origin of the Bantu-speaking Negroid population from a proto-Bantu stock and the common practice of polygamy in African Negroids, as were specific correlations between the different polymorphisms within the Negroid population only. In general, no single haplotype for a given enzyme system strictly correlated with a haplotype from any of the other three systems, suggesting that each polymorphism results from a combination of restriction site mutations and rearrangement events. This tremendous variability has potential in paternity testing for male offspring.