摘要
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.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
北大核心
1998年第1期27-30,共4页
Chinese Journal of Medical Genetics
关键词
DXS102座位
遗传多态性
血友病B
中国
Chinese population DXS102 locus Short tandem repeats Genetic polymorphisms Hemophilia B Gene diagnosis