微卫星D19S591和D19S395在家族性热性惊厥相关分析中的应用

The application of microsatellite markers D19S591 and D19S395 for assciation studies on familial febrile convulsions

目的明确家族性热性惊厥是否与 19号染色体短臂 ( 19p13.3)关联方法对 10 0例正常人和 6 3个热性惊厥家系进行D19S5 91和D19S395分型 ,结果用遗传学群体与家系资料分析计算机系统PPAP(PopulationandPedigreeAnalysisPro grams)进行分析结果D19S5 91和D19S395在中国正常人群和热性惊厥家系均处于Hardy Weinberg平衡 ,并有较高的多态信息含量 (PIC) ,同时 ,D19S5 91和D19S395均有一种单体型频率在中国正常人群和热性惊厥家系存在显著性差异结论家族热性惊厥可能与

Objective:To confirm the association of familial febrile convulsions (FC)with the short arm of chromosome (19p13.3).Methods:Two microsatellite tetranucleotide repeats D19S591 and D19S395 were used to type the normal controls and FC pedigrees,the results were processed with the Chinese Population and Pedigree Analysis Package(PPAP).Results:Both the markers passed the HardyWeinbery test on Chinese normal controls and FC pedigrees.The polymorphic information contents(PIC) resulted from Chinese population are high.Both D19S591 and D19S395 have a haplotype which is distinct between FC cohorts and normal controls.Conclusion:There might be association between FC and a locus on chromosome 19p.