论文部分内容阅读
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(YchromosomalAluinsertionpolymorphism,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。
BACKGROUND: The DYS287 locus is a Yluo insertional polymorphism (YAP) locus on the long arm Yq11 of Y chromosome. There is a lack of research on the genetic polymorphism of DYS287 in Chinese She population. OBJECTIVE: To reveal the distribution of DYS287 locus polymorphism in She ethnic groups in China and the differences and associations between She ethnic groups and other ethnic minorities at this locality, so as to provide reliable evidences for the study of medical genetics, anthropology and forensic science Data and scientific basis. Design: Prospective study. Location, Subjects and Methods: 117 cases of unrelated men and women were randomly selected from the She population in the three provinces of Jiangxi, Zhejiang and Fujian provinces. Blood samples were collected from 5 mL venous blood and poured into gauze soaked in heparin solution at room temperature Under natural drying conditions, made of blood yarn block. After the DNA was extracted, this site was amplified by PCR-SSP and the results were analyzed by agarose gel electrophoresis. MAIN OUTCOME MEASURES: ① The gel after electrophoresis was placed under a UV detector to observe whether there is a 455bp amplified fragment. ② sampling sites in different locations, YAP + cases, Alu insertion frequency comparison. Results: The frequency of Alu insertion (ie, YAP + frequency) was 18.18% in the SHE population in 117 cases of She population, 455 bp in PCR and 17.1% in YAP + , 18.06%, 13.04%, YAP + frequency, the difference was not statistically significant (P> 0.05). Conclusion: As a stable and reliable genetic marker, DYS287 locus can provide reliable evidence for studying the genetic relationship among ethnic groups and their origin.