论文部分内容阅读
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；结论：家族性热性惊厥可能与８ｑ的某些位点相关
OBJECTIVE: To identify the association of familial febrile seizures with the long arm of chromosome 8 (8q13-21). METHODS: 135 healthy subjects and 63 febrile seizures were polymerized using microsatellite dinucleotide repeat D8S84 and D8S85 PCR-PAGE was used to characterize the results. The results were compared with PPAP in genetics group and pedigree system. Results: The two markers were in Hardy-Weinburg equilibrium in Chinese normal population, Western polymorphism information content (PIC), D8S85 two haplotype frequencies in the febrile seizure group and the normal population there is a significant difference; Conclusion: familial febrile seizures may be associated with some sites 8q Related