【摘要】 目的　对 1个良性家族性婴儿惊厥 (benignfamilialinfantileconvulsions,BFIC)家系进行疾病基因的染色体 19q12 0～ 13 1区域定位研究。方法　应用聚合酶链式反应 (PCR) ,变性聚丙烯酰胺凝胶电泳 (PAGE)和银染技术 ,采用LINKAGE软件包 ,选择位于 19q12 0～ 13 1区域的 5个微卫星DNA标记D19S49、D19S2 5 0、D19S414、D19S416、D19S2 45对该家系主要成员行单体型分析及连锁分析。结果　本BFIC家系单体型分析及连锁分析结果示D19S49、D19S416、D19S2 45最大两点LOD值位于D19S416 ,重组率为 0 3时 ,最大值为 0 5 2 ;当重组率为 0时 ,LOD值均为 ∞ ;当重组率为 0 1时 ,LOD值均小于 0。D19S2 5 0、D19S414不能提供遗传信息。结论　本BFIC家系单体型分析及连锁分析证实本家系疾病基因不在D19S49与D19S2 45之间的染色体区域内 ,提示此类疾病存在遗传异质性。更多还原

【Abstract】 Objective To make the gene mapping of one Chinese benign familial infantile convulsion (BFIC )pedigree on chromosome 19q12 13 1 Methods Five microsatellite DNA markers (D19S49, D19S250, D19S414, D19S416, D19S245) were chosen to make haplotype and linkage analysis of this BFIC family Results Among the 3 markers D19S49,D19S416,D19S245, the maximum LODs was located on D19S416 When the recombinant rate was 0 3, the maximum LOD score was 0 52; when the recombinant rate was 0, the LOD score was ∞; when the recombinant rate was 0 1, the LOD score was less than 0 The D19S414 and D19S250 could not provide information Conclusion BFIC gene of the family was not linked between D19S49 and D19S245, which suggested that there was heterogeneity in BFIC更多还原