家族性热性惊厥与人染色体19p13.3连锁
Familial febrile convulsions is supposed to link to human chromosome 19p13.3
目的 初步明确家族性热性惊厥(FC)相关基因在染色体上的定位。方法 对63个FC家系共248名成员进行染色体19p上四核苷酸微卫星标记D19S253、D19S395、D19S591和染色体8q上二核苷酸微卫星标记D8S84和D8S85的基因分型,进行传递不平衡(TDT)检验。对其中10个三代家系共81名成员用PPAP软件计算优势对数记分(Lod)值。结果 FC家系成员和正常对照人群(103名)在3个位点上各等位基因分布均符合Hardy-Weinburg平衡。FC家系在D8S84、D19S395和D19S591位点都存在传递不平衡,χ2值分别为4.0、5.124和7.364,均P<0.05,差异有显著意义。D19S253、D19S395和D19S591与FC表型的两点Lod值分别为0.58、1.53和1.42,而多点Lod值达到2.78。D8S84和D8S85与FC表型的两点Lod值分别为0.00002和0.000017,8q上此2标记与FC多点Lod值为0.88。非参数分析(TDT法)和参数分析(Lod值法)的结果基本一致。结论 FC与人染色体19p13.3连锁,而不与染色体8q连锁。
更多Objective To localize the familial febrile convulsion (FC) geneson human chromosomes. Method For 63 FC pedigrees, tetranucleotide repeat markers D19S253 D19S395 and D19S591 on the short arm of chromosome 19, as well as dinucleotide repeat markers D8S84 and D8S85 on the long arm of chromosome 8 were genotyped. Transmission disequilibrium test (TDT) and Lod score calculation were carried out. The data were processed by PPAP software package. Results All the alleles in every locus of FC probands and normal controls were in Hardy-Weinburg balance. Transmission disequilibrium was found on D8S84, D19S395 and D19S591 in FC families. χ2 values were 4.0, 5.124 and 7.364 separately. Each P value was <0.05, and significantly meaningful. The two-point Lod scores between D8S84 and FC, D8S85 and FC, D19S253 and FC, D19S395 and FC, D19S591 and FC are 0.000 02, 0.000 017, 0.58, 1.53 and 1.42 respectively. The multi-point Lod score among markers on chromosome 8q and FC was 0.88, while Lod score among markers on chromosome 19p and FC reached 2.78. The results by both the non-parameter (TDT) and parameter (Lod score) methods were consistant on a whole. Conclusion FC is linked with chromosome region 19p13.3, but not with chromosome 8q.
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