【摘要】 目的 :对 5例中国良性家族性婴儿惊厥 ( BFIC)家系进行基因定位研究。方法 :选择 D8S50 2 、D8S537等 STR作为 DNA标记 ,应用聚合酶链反应 ( PCR) ,变性聚丙烯酰胺凝胶电泳 ( PAGE)和银染技术 ,采用 LINKAGE软件包中的 MLINK程序进行连锁分析。结果 :在常染色体显性 ( AD)模式下 ,在标记位点 D8S50 2 处 ,5个家系在重组率为 0 .0 5 0 ,外显率为 70 %时 ,获得两点对数优势计分 ( LOD)值总和为 0 .337;在标记位点 D8S537处 ,5个家系在外显率为 70 % ,重组率从 0 .0 0 0到 0 .40 0之间 ,获得两点 L OD值总和均为负值。结论 :不能认为位点D8S50 2 和 D8S537与 BFIC疾病基因存在连锁关系更多还原

【Abstract】 Objective:To map the gene for five Chinese BFIC pedigrees. Methods∶ Two short tandem repeat loci including D 8S 502 and D 8S 537 were chosen as DNA markers for linkage analysis. Several technical measures including PCR, PAGE and sliver straining were used. Linkage analysis was performed by MLINK program from LINKAGE package. Results:One maximum two-point LOD score of 0.337 for D 8S 502 was obtained at recombination rate of 0.050 under autosomal dominant model with 70% penetrance. Two-point LOD score of negative for D 8S 537 was obtained at recombination rate from 0.000 to 0.500 under autosomal dominant model with 70% penetrance. Conclusion:The result does not support that the gene for BFIC pedigrees was linked to D 8S 502 or D 8S 537.更多还原