良性家族性婴儿惊厥基因定位

目的：对5个中国良性家族性婴儿惊厥(benign familial infantile convulsion，BFIC)家系进行基因定位研究。方法：选择D19S245、D19S250、D16S3131、D16S3133、D2S399、D2S2330等6个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D19S250处，家系2、3、5在重组率为0．000，外显率为90％时，获得最大两点对数优势计分值(log odds score，LOD)总和为2．151；在标记位点D16S3131处，家系2、5在重组率为0．085，外显率为70％、60％时，获得最大两点LOD值总和分别为1．056、1．155；在重组率为0．080，外显率为50％时，获得最大两点LOD值总和为1．227。提示这2个位点与BFIC疾病基因可能存在连锁关系。在其他位点处未获得提示连锁关系的信息。结论：部分BFIC家系的致病基因可能与D19S250或D16S3131存在连锁关系。

The primary research in mapping the gene for BFIC

Aim: To map the gene for five Chinese BFIC pedigrees. Methods:Six short tandem repeat loci including D19S245, D19S250, D16S3131 , D16S3133, D2S399 and D2S2330 were chosen as DNA markers for linkage analysis. Several technical measurements 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 2. 151 for D19S250 was obtained at recombination rate of 0. 000 under autosomal dominant model with 90% penetrance. For D16S3131 , two maximum two-point LOD score of 1.056, 1. 155 were obtained at recombination rate of 0.085 under autosomal dominant model with 70% , 60% penetrance. Another maximum two-point LOD score of 1.227 was obtained at recombination rate of 0. 085 with 50% penetrance. This suggested that the gene for BFIC pedigrees maybe linked to D16S3131 or D19S250. At other DNA markers, no information that suggested linkage was produced. Conclusion:The gene for BFIC maybe linked to D16S3131 or D19S250.