中国人群DXS102座位多态性鉴定及其应用

DETERMINATION OF THE POLYMORPHISM OF DXS102 LOCUS AND ITS APPLICATION IN GENE DIAGNOSIS

目的探讨中国人群中ＤＸＳ１０２座位的多态分布。方法应用ＰＣＲ扩增片段长度多态性（Ａｍｐ－ＦＬＰ）研究了无亲缘关系的２３４条Ｘ染色体。结果ＤＸＳ１０２座位等位片段有８个，核心单元ＡＣ二核苷酸重复数为１３～２１，频率分布在０．０１３～０．１５６之间，杂合度观察值和无偏估测值分别为０．８７和０．８０，多态信息含量（ＰＩＣ）０．８０，女性基因型数为２２个，男性基因型数为８个，该座位多态分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。ＤＸＳ１０２座位在中国人群和欧洲人群的分布有明显的种族差异，在中国人群中发现了两个新的等位片段。应用ＤＸＳ１０２座位的短串联重复序列多态性对一接受基因治疗的血友病Ｂ家系进行分析和携带者筛查。结论ＤＸＳ１０２座位连锁分析有望成为一种有效的血友病Ｂ基因诊断的方法。

Objective To determine the polymorphism of DXS102 and use it in gene diagnosis in hemophilia B. Methods Amp FLP and linkage analysis on 234 chromosomes. Results Eight alleles were found at DXS102 locus. The number of AC dinucleotide repeats ranged from 13 to 21. And the observed heterozygosity, calculated heterozygosity and polymorphism information content(PIC) were 0.87, 0.80 and 0.80, respectively. It was noted that the difference of the allele frequencies of DXS102 in Chinese and European populations was significant. By using the linkage analysis of the DXS102 locus, a family with a hemophilia B patient receiving gene therapy in 1994 was analyzed and a carrier in that family was then detected.Conclusion The polymorphism of DXS102 locus reveals significant difference between Chinese and European populations. DXS102 locus can be used as a promising marker for gene diagnosis in hemophilia B family.