江浙沪和哈尔滨地区汉族D17S30位点的多态性分布  

DISTRIBUTION OF D17S30 LOCUS POLYMORPHISM OF CHINESE HANS FROM JIANGSU ZHEJIANG SHANGHAI AND HARBIN

作　　者：冯哲[1,2] 冯明亮[1,2] 嵇月华 张雁征[1,2] 杨颖 陆琼[1,2] 张工梁 杜庆田[3] 陈仁彪 

机构地区：[1]上海市血液中心 [2]上海输血研究所免疫遗传室 [3]黑龙江省医院 [4]上海第二医科大学生物学教研室和医学遗传教研室

出　　处：《人类学学报》1999年第1期53-59,共7页Acta Anthropologica Sinica

摘　　要：Ｄ１７Ｓ３０是位于人类染色体１７ｐ１３．３、以７０ｂｐ为重复单位的、具有高度多态性的ＶＮＴＲ位点。本文采用作者报道的微量快速Ａｍｐ－ＦＬＰ分型技术，对１００名哈尔滨市北方汉族人和１１０名江浙沪南方汉族人作了Ｄ１７Ｓ３０位点分型，发现在北方汉族与江浙沪南方汉族之间等位基因频率分布并无显著差异，但可见Ａ１和Ａ７基因频率北高南低，Ａ４基因频率则为南高北低，提示存在南北汉族之间的分化。Ｄ１７Ｓ３０位点南北方汉族观察杂合性均为０．８８，个体鉴别力均为０．９７，多态性信息含量均为０．８６。本文结果提示，采用微量快速Ａｍｐ－ＦＬＰ分型技术分析Ｄ１７Ｓ３０位点多态性，具有较高的灵敏度与准确性，可在我国作为一种高效的遗传标记应用于民族演变、法医学个体指认与亲子鉴定、遗传病基因连锁分析等研究领域。D17S30 is a highly polymorphic variable number of tandem repeats(VNTR) locus with repeat unit being a segment of 70bp, which is located on human chromosome 17p13 3. Using a miniature and rapid amplified fragment length polymorphism (Amp FLP) technique reported by this paper's authors, we typed the D17S30 loci in 100 northern Chinese Hans from Harbin and 110 southern Chinese Hans from Jiangsu Zhejiang Shanghai areas, and discovered that there is no significant difference of D17S30 allele frequencies between northern and southern Hans with A1 and A7 having frequencies higher in northerners and lower in southerners, and with A4 vice versa suggesting differentiation between northern and southern Chinese Hans. The observed heterozygosity, power of discrimination and polymorphism information content of the D17S30 locus are 0.88,0.97 and 0.86 respectively for both northern and southern Hans. The results obstained indicate that analysis of D17S30 locus polymorphism with the miniature and rapid Amp-FLP technique has higher sensitivity and accuracy and can be used as an efficient genetic markers in the studies of ethnic evolution, individual recognition and paternity test in forensic diagnosis, and linkage analysis of genetic disease genes.

关 键 词：D17S30位点 VNTR 汉族 多态性分布 

分 类 号：Q987[生物学—遗传学]