四川汉族人群Y染色体单倍组及其特点的研究

目的建立四川汉族人群Y染色体单倍组的分布资料。方法应用PCR-限制性片段长度多态性、变性高效液相色谱技术、DNA测序方法对341份四川汉族男性标本Y染色体18个二态位点进行基因分型。结果共观察到14个Y染色体单倍组,其中H2、H4单倍组在四川汉族中被首次证实,N＊、H14单倍组为中国人群首次报道。四川汉族人群Y染色体单倍组分布频率与已报道的中国南方汉族人群相比差异具有统计学意义。结论该研究获得了更为准确的四川汉族人群的Y染色体单倍组分布频率,为生精障碍、前列腺癌和睾丸癌等男性特异性疾病的Y连锁遗传因素研究奠定了基础。

Study on the distribution of Y chromosome haplogroups in Sichuan Han population

Objective To investigate the distribution characteristics of Y chromosome haplogroups in Sichuan Han population. Methods 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. Results 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. Conclusion 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.