【摘要】 目的探讨一个中国人良性家族性新生儿惊厥(benignfamilialneonatalconvulsions,BFNC)家系的临床及致病基因特点。方法对该家系进行详细的调查,并对其临床资料进行分析。采集该家系13名成员的外周静脉血并抽提其基因组DNA,采用荧光标记的多重聚合酶链反应技术对该家系的疾病基因进行连锁分析;采用PCR-DNA直接测序及限制性酶切技术对该家系的先证者、家系内12人及家系外76名无血缘关系的正常人进行KCNQ3基因突变分析。结果该家系3代患者7例,均于出生后3天左右出现无热性癫痫发作,1月之内癫痫发作完全消失,先证者血生化、染色体核型分析、发作间期脑电图及头颅CT无异常,所有患者精神运动发育良好。连锁分析支持与KCNQ3基因连锁,PCR-DNA直接测序在先证者发现KCNQ3基因新突变988(C→T),进一步的限制性酶切分析及DNA测序证实该突变与家系内患者共分离。结论中国人BFNC患者存在KCNQ3基因突变。更多还原

【Abstract】 Objective To study the clinical and genetic characteristics of a Chinese family with benign familial convulsions (BFNC). Methods The clinical data of this family was analyzed. The blood samples were collected from 13 members of this family. By four microsatellite markers which are located in the gene loci of both K~+ channel KCNQ2 and KCNQ3, the linkage analysis was performed in the family. With DNA direct sequencing and restriction endonuclease cutting analysis, the mutation analysis of KCNQ3 gene was made for the proband, other 12 family members and 76 unrelated normal individuals. Results There were 7 patients with BFNC observed in the three generation of family. The BFNC seizures of all patients disappeared during one month and no recurrence of seizures was found. The linkage analysis suggested the disease gene linked to KCNQ3 gene locus in the family. The mutation 988(C→T) of KCNQ3 gene was found in the proband by DNA-direct sequencing. Cosegregation of this mutation with BFNC was confirmed by restriction endonuclease cutting analysis. Conclusion Chinese patients with BFNC can be caused by KCNQ3 gene mutation.更多还原