良性家族性新生儿惊厥三家系的基因诊断研究  

Genetic study on 3 Chinese families with benign familial neonatal seizures

作　　者：李海燕[1] 唐北沙[1] 张爱梅[2] 曹秋惠[2] 孟桂莲 江泓[1] 沈璐[1] 赵国华[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]潍坊市人民医院儿科 [3]山东省梁山县人民医院儿科

出　　处：《中华神经科杂志》2004年第6期491-494,共4页Chinese Journal of Neurology

基　　金：国家 8 63计划资助项目 (2 0 0 1AA2 2 70 11)

摘　　要：目的　探讨中国人良性家族性新生儿惊厥 (BFNS)的基因特点 ,为该病的基因诊断提供依据。方法　应用聚合酶链反应 (PCR) 变性聚丙烯酰胺凝胶电泳技术 ,对 3个中国BFNS家系的KCNQ2及KCNQ3基因位点进行连锁分析 ;采用PCR DNA直接测序法对此 3家系进行KCNQ2基因突变分析。结果　连锁分析排除 3家系致病基因与KCNQ3基因连锁 ,提示家系 3与KCNQ2基因连锁 ,不能除外家系 1、2与KCNQ2基因连锁 ;KCNQ2基因突变分析在 3个家系中发现 1种移码突变 1931delG及 3种同义突变G5 4 3A、C912T和T2 15 4A。结论　中国人BFNS患者中存在KCNQ2基因突变 ;中国人BFNS具有遗传异质性 ,在KCNQ2、KCNQ3之外可能还有另外的致病基因 ;BFNS的表型和基因型可能有一定的相关性。Objective To investigate the genetic characteristics in Chinese patients with benign familial neonatal seizures (BFNS) and thus to provide a basis for the gene diagnosis. Methods Linkage analysis was performed in three Chinese families using microsatellite markers which lie in the loci of KCNQ2 and KCNQ3. DNA direct sequencing was used to detect KCNQ2 gene in the three families. Results Linkage analysis excluded the linkage with KCNQ3 in the three families and hinted the linkage with KCNQ2 in family 3, but couldnt exclude the linkage with KCNQ2 in family 1 and family 2. In this mutation analysis of KCNQ2 gene, we found a frameshift mutation of 1931delG in the family 3. No mutation was found in family 1 and family 2. In the meantime, three polymorphisms which were G543A、C912T、T2154A were also found. Conclusions Chinese BFNS might be caused by the mutation of KCNQ2 gene. Chinese BFNS having genetic heterogeneity, might have another gene locus besides the loci of KCNQ2 and KCNQ3. The genetype may possibily relate to the phenotype in BFNS.

关 键 词：良性家族性新生儿惊厥 家系 基因诊断 钾通道 

分 类 号：R720.597[医药卫生—急诊医学]