微卫星D8S84和D8S85在家族性热性惊厥人群相关性分析中的应用

The polymorphisms of microsatellite markers D8S84 and D8S85 in Chinese population and their application for association studies on familial febrile convulsions.

目的：确认家族性热性惊厥与８号染色体长臂（８ｑ１３－２１）的关联；方法：用微卫星二核苷酸重复序列Ｄ８Ｓ８４和Ｄ８Ｓ８５对１３５例正常人和６３个热性惊厥家系进行聚合酶链反应－变性聚丙烯酰胺凝胶电泳（ＰＣＲ－ＰＡＧＥ）分型，结果用遗传学群体与家系计算机系统ＰＰＡＰ统计；结果：两种标志基因在中国正常人群处于Ｈａｒｄｙ－Ｗｅｉｎｂｕｒｇ平衡，并有较西方人略高的多态信息含量（ＰＩＣ），Ｄ８Ｓ８５的两种单体型频率在热性惊厥群体和普通正常人群存在显著性差异；

Objective: To confirm the asociation of familial febrile convulsions(FC)with the long arm of chromosome 8(8q1321).Methods Polymerase chain reactions and denatured polyacrylamide gel electrophoreses(PCRPAGE) of two microsatellite dinucleotide repeats D8S84 and D8S85 were used typing these markers,and calculated by a Chinese population and pedigree analysis package(PPAP).Results: Both themarkers passed the HardyWeinburg test on Chinese population with relatively higher polymorphic information contents(PICs) than that from Westerners.Two hyplotype frequencies of D8S85 are distinct between FC cohort and normal controls.Conclusion:There might be some association between FC and a locus on 8q chromosome.