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目的 探讨良性家族性婴儿惊厥 (ｂｅｎｉｇｎｆａｍｉｌｉａｌｉｎｆａｎｔｉｌｅｃｏｎｖｕｌｓｉｏｎｓ,ＢＦＩＣ)基因与染色体rrrrrrrrn1 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rrrrrrrrn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、rrrrrrrrnＤ1 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、rrrrrrrrnＤ2Ｓ1 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rrrrrrrrn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rrrrrrrrn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rrrrrrrrn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 rrrrrrrrnＤ1 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?
Objective To investigate the relationship between benign familial inflammatory polyneurosis (BFIC) gene and chromosomes 9q1 2 1 3 1, 1 6p1 2 q1 2 and 2q2 4 relationship. Methods A blood sample of 19 members of this family was collected from a 4-generation BFIC pedigree in Hunan Province, China. The blood samples were collected from 1 9q1 2 1 3 1,1 Seven microsatellite markers of 6p1 2 q1 2 and 2q2 4: D1 9S49, r r r r r r r nD1 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, r r r r r r r nD2S1 1 1 , D2S3 99, D2S2 3 45, D2S2 3 3 0, D2S2 3 80, D2S2 1 95, and the amplified product was obtained by polymerase chain reaction (PCR) r n break, using ABI3 77 automatic sequencer or the StrategeneEagleEye Ⅱ image analyzer to determine PCR product fragment size. According to the size of the fragment of the corresponding microsatellite markers, the genotypes of each sample are obtained according to r r r r r r r r r r After proofreading the genotype data, the MLINK program of the LINKAGE software is used to calculate the LOD value of each mark, and the judgment is made according to the LOD value between two points Chain relationship. Result r r r r r r r nD1 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 Because can not be based?