中国畲族人群DYS287遗传多态性的研究

背景DYS287位点是位于Y染色体长臂Yq11的一个Alu序列插入多态(Y chromosomal Aluinsertion polymorphism,YAP),关于中国畲族人群DYS287遗传多态性的研究尚缺乏.目的揭示中国畲族群体DYS287位点多态性的分布规律,以及畲族人群与其他少数民族在此位点多态性方面的差异和联系,为医学遗传学、人类学和法医学等的研究提供可靠数据和科学依据.设计前瞻性研究.地点、对象和方法在江西、浙江、福建三省畲族世居区内随机选择无血缘关系、三代为畲族的男性个体117例,抽取静脉血5mL,倒至用肝素溶液浸泡过的纱布中,室温条件下自然干燥,制成血纱块.提取DNA后,采用PCR-SSP法对此位点进行扩增,经琼脂糖凝胶电泳检测结果.主要观察指标①将电泳后的凝胶置于紫外检测仪下观察是否有455bp扩增片段.②不同地点的采样例数、YAP+例数,Alu插入频率比较.结果117例畲族男性个体中有20例为YAP+,PCR扩增片段为455bp,YAP+频率为17.1%;江西、浙江和福建三省不同地区的畲族人群Alu插入频率(即YAP+频率)分别为18.18%,18.06%,13.04%,YAP+频率比较,差异无显著性意义(P＞0.05).结论DYS287位点作为一种稳定、可靠的遗传标记可以为研究民族间的遗传关系及其起源提供可靠的证据.

Investigation of Ychromosome Alu insertion polymorphism in Chinese She Nationality

BACKGROUND: DYS287 which locates on Yqll is an Alu insertion polymorphisn(YAP) . Research on DYS287 polymorphism in Chinese She nationality is scarce.OBJECTIVE: To explore the distributing rules of the DYS287 polymorphism in Chinese She nationality, as well as the differences and relations of the site polymorphism between She nationality and others and to provide reliable data and scientific evidence for medical genetics, anthropology and forensic medicine.DESIGN: A prospeetive study.SETTING, PARTICIPANTS and INTERVENTIONS: One hundred and seventeen males, She nationality fir three generations, without blood relationship, were randomly selected from Jiangxi, Zhejiang and Fujian provinces, where She nationality live in generations by generations. Five ml vein blood was extracted and poured on the carbasus that had been soaked witl heparin solution. Dehydrate it at the room temperature to make a blood gauzy lump. After extracting DNA, this site was amplified by polymerase chain reaction-sequence specific primers(PCR-SSP) method, and the result by agarose gel electrophoresis.MAIN OUTCOME MEASURES: A total of 455 bp amplification fragments were observed by ultraviolet detector, with comparison of the sample number,Yap+ number and Alu insertion frequency iii different areas.RESULTS: Among the 117 males of She nationality, 20 of them got YAP+,with tle PCR amplification fragment being 455 bp. The YAP+ frequency in Chinese She nationality was 17. 1%, and the Alu insertion frequency(YAP+frequeney) of She nationality in different areas of Jiangxi, Zhejiang and Fujian province was 18. 18%, 18.06% and 13.04% respeetivelyy, which compared with YAP+ frequency, indicated no significant difference( P ＞0.05).CONCLUSION: DYS287, a stable and reliable genetic marker, can provide relialble evidence for the study on national genetic relation and its origin.