全面性癫伴热性惊厥附加症2家系GABRG2基因突变分析

Analysis of GABRG2 Gene Mutation in 2 Generalized Epilepsy with Febrile Seizures Plus Families

目的收集2个全面性癫伴热性惊厥附加症(GEFS+)家系,分析中国人GEFS+的遗传特点。并对2个GEFS+家系进行GABRG2基因突变检测,以期发现新的突变位点。方法对参与本研究的2个GEFS+家系成员在知情自愿的情况下参与调查、体检和血样本采集。另取20名健康体检儿童作为对照。对先证者及患者和健康对照组GABRG2基因全部9个外显子进行测序。将患者基因组各外显子片段测序结果与GenBank中的正常序列和健康对照组外显子片段测序结果通过互联网(BLAST)进行比对分析。结果 GEFS+2个家系成员共40份外周血中均未发现K289M、R43Q、Q351X、IVS6+2T→G、R139G、W390X等6种已知突变位点,仅在外显子5第40碱基处发现1个已知C/T多态性。结论 GABRG2基因很可能不是我国汉族人群GEFS+家系主要的致病基因,其与国外报道的GEFS+的主要致病基因存在种族及地域差异。

Objective To collect 2 families with generalized epilepsy with febrile seizures plus （ GEFS＋ ） and analyze heredity features of Chinese GEFS＋ . GABRG2 gene of 2 families were detected, and expect to find new mutation sites. Methods All participant in the study of 2 families members were informed of voluntary participate in this investigation, health examination and blood samples. Twenty healthy children as control group. All 9 gene exons of proband, patients and healthy control group were sequenced. The sequencing result was compared and analyzed with the normal sequence of genomic exon fragment and exon fragment sequencing result of control group through internet（BLAST）. Results The data excluded the involvement of all known published mutations of GABRG2 gene （K289M, R43Q, Q351X, IVS6 ＋ 2T--＋G, R139G, W390X） in the 40 samples of 2 GEFS＋ families, but a known C/T polymorphism was found in the 40th basyl of GABRG2 gene exon 5. Conclusion Mutation of GABRG2 gene may be not the main cause of GEFS ＋ families in China, with racial and geographical differences of foreign countries.