【摘要】 目的　探讨良性家族性婴儿惊厥 (ｂｅｎｉｇｎｆａｍｉｌｉａｌｉｎｆａｎｔｉｌｅｃｏｎｖｕｌｓｉｏｎｓ,ＢＦＩＣ)基因与染色体1 9ｑ1 2 1 3 1 , 1 6ｐ1 2 ｑ1 2以及 2ｑ2 4区域的连锁关系。方法　 1个中国湖南地区 4代ＢＦＩＣ家系 ,采集本家系中 1 9名成员的血样 ,选择位于 1 9ｑ1 2 1 3 1、1 6ｐ1 2 ｑ1 2以及 2ｑ2 4的 1 7个微卫星标记 :Ｄ1 9Ｓ49、Ｄ1 9Ｓ2 50、Ｄ1 9Ｓ41 4、Ｄ1 9Ｓ41 6、Ｄ1 9Ｓ2 45、Ｄ1 6Ｓ3 1 3 1、Ｄ1 6Ｓ3 0 93、Ｄ1 6Ｓ40 1、Ｄ1 6Ｓ41 5、Ｄ1 6Ｓ51 7、Ｄ1 6Ｓ3 1 2 0、Ｄ2Ｓ1 1 1、Ｄ2Ｓ3 99、Ｄ2Ｓ2 3 45、Ｄ2Ｓ2 3 3 0、Ｄ2Ｓ2 3 80、Ｄ2Ｓ2 1 95,应用聚合酶链式反应 (ＰＣＲ)得到扩增产物片断 ,采用ＡＢＩ3 77全自动测序仪或ＳｔｒａｔｅｇｅｎｅＥａｇｌｅＥｙｅⅡ型图象分析仪测定ＰＣＲ产物片段大小。根据相应微卫星标记的产物片断大小不同 ,得到每个样本的基因型。对基因型数据进行校对后 ,用连锁分析软件ＬＩＮＫＡＧＥ的ＭＬＩＮＫ程序计算每个标记的ＬＯＤ值 ,根据两点间ＬＯＤ值判断连锁关系。结果　Ｄ1 6Ｓ3 1 3 1、Ｄ1 6Ｓ51 7、Ｄ1 6Ｓ3 1 2 0、Ｄ1 6Ｓ3 0 93、Ｄ2Ｓ2 3 80、Ｄ1 9Ｓ2 50、Ｄ1 9Ｓ41 4因不能进行基?更多还原

【Abstract】 Objective Benign familial infantile convulsions (BFIC) is a recently recognized autosomal dominant inherited disorder This epileptic syndrome typically begins between 3 and 12 months of age with clusters of partial seizures in most cases and carries a good prognosis So far, three loci have been linked to chromosome 19q12 1 13 1, chromosome 2q24 and chromosome 16p12 q12 The authors performed linkage analysis on this pedigree Methods A four generation Chinese family was investigated The total number of members was 32 in this family and two neurologists in Xiangya Hospital gave systemic physical examinations and interictal neurological examinations to nineteen members of this family Venous blood samples were taken for genetic analysis DNA was extracted from peripheral blood leukocytes using phenol chloroform method Seventeen microsatellite markers spanning the critical regions on chromosomes 19q12 13 1, 2q24, and 16p12 q12 were genotyped These markers included D19S49, D19S250, D19S414, D19S416 and D19S245 for the 19q region, D2S2380, D2S399, D2S111, D2S2195, D2S2330 and D2S2345 for the 2q region, D16S401, D16S3131, D16S3093, D16S517, D16S3120 and D16S415 for the 16p q region The DNA from each sample was amplified for the 17 markers After polymerase chain reactions (PCR), PCR products of chromosome 19 with markers D19S49, D19S250, D19S414, D19S416 and D19S245 were subjected to electrophoresis on 8% denatured polyacrylamide gel for at least 2 hours and 20 minutes Then the length of the PCR products was judged in the Strategene Eagle Eye Ⅱ automated gel image analyzer For the markers from chromosome 2 and 16, PCR products were scanned at ABI 377 autosequencer The data of PCR products were analyzed using the software Genescan v3 1, Genetyper v2 1 (Applied Biosystem, CA USA) and GenoDB v1 0 After Mendelian checking, the eligible genotyping data were used for linkage analysis LOD scores were calculated by using MLINK program of LINKAGE v5 1, under an assumption of autosomal dominant inheritance and the estimated penetrance was 0 9 The allele frequencies of each marker were assumed to be equal and the disease allele frequencies were designated to be 1/10 000 The LOD scores were calculated at combination rate (θ) 0 0, 0 1, 0 2, 0 3, and 0 4. Results Among the 17 selected microsatellite markers, which cover the previously reported regions, seven markers′ data (D16S3131, D16S517, D16S3120, D16S3093, D2S2380, D19S250 and D19S414) were omitted due to failed genotyping, low genetic heterogeneity, or failure to pass Mendelian checking Omission of these markers was to ensure the reliability of our raw data The two point LOD scores were below zero for all the markers and the maximum LOD scores at θ= 0 0 were less than -2 for markers D19S49,D19S416,D19S245,D16S401,D16S415,D2S399,D2S111,D2S2195,D2S2330 and D2S2345 Thus, the linkage result showed no evidence that the disease locus is linked to any of these selected markers, which excludes the previously reported candidate regions found in other ethnic families Conclusion There is no evidence that this Chinese family was linked to one of the following loci: 19q12 1 13 1, 16p12 q12 and 2q24 The results indicated that BFIC showed genetic heterogeneity and the Chinese BFIC families might be mapped on another new locus更多还原