A novel dimorphism in the human SRY gene: usefulness in human migration studies

A nucleotide polymorphism of C or T was detected at position 465 in the sex -determining region Y (SRY) gene. To evaluate the utility of this dimorphis m in human population studies, the frequency and the frequency of the haplo type combined with the two polymorphic loci YAP and M9 were examined in a t otal of 130 unrelated Japanese and 130 unrelated German males. The T nucleo tide was found in 24.6% (32/130) of the Japanese but not in any of the 130 German males. Accordingly, four of the eight possible combination haplotype s of SRY/YAP/M9 were identified in the Japanese population, but one of the four haplotypes comprising SRY(T) was absent in the German samples. This su ggests that the C to T transition may be more recent than the YAP insertion or the M9 transversion and the change might have occurred in an ancestral Asian population. These results imply that the dimorphism at the SRY gene i s one of the Y-linked markers useful for human population studies and also for ethnic identification of forensic samples.