Study on the distribution of Y chromosome haplogroups in Sichuan Han population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the distribution characteristics of Y chromosome haplogroups in Sichuan Han population.</p><p><b>METHODS</b>Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), denatured high performance liquid chromatography (DHPLC) and DNA sequencing methods, 18 Y-chromosome bialletic markers were detected to type Y chromosome haplogroups in 341 unselected men from Sichuan Han population.</p><p><b>RESULTS</b>A total of 14 haplogroups were observed, in which haplogroups H2 and H4 were identified for the first time in Sichuan population, and haplogroups H14 and N* were found firstly in Chinese. There was a significant frequency difference of Y haplogroups between Sichuan Han population and Southern Han population.</p><p><b>CONCLUSION</b>More comprehensive frequency distribution data of Y chromosome haplogroups are obtained in Sichuan Han population, which would be helpful for understanding the association of Y chromosome background and the susceptibility to male specific diseases such as spermatogenic failure, prostate cancer, testical cancer and so on in present population.</p>