LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症患者的突变分析  

Mutation analysis of LITAF,RAB7,LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease

作　　者：张如旭[1] 郭鹏[2] 任志军[2] 赵国华[2] 刘三妹[1] 刘婷[1] 资晓宏[1] 胡正茂[3] 夏昆[3] 唐北沙[2] 

机构地区：[1]中南大学湘雅三医院神经内科,长沙410013 [2]中南大学湘雅医院神经内科,长沙410008 [3]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《遗传》2010年第8期817-823,共7页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:30600200);湖南省自然科学基金项目(编号:2006JJ30009)资助

摘　　要：为了分析LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)的突变特点,文章分别应用PCR结合DNA序列分析方法和PCR-单链构象多态性(PCR-SSCP)结合DNA序列分析方法对6个常染色体显性遗传家系先证者和27个散发病例进行LITAF和RAB7基因突变分析;应用PCR-SSCP结合DNA序列分析方法对14个常染色体遗传的CMT家系先证者和27个散发患者进行LMNA和MTMR2基因突变分析。结果发现:LITAF基因c.269G→A、c.274A→G序列变异和LMNA基因c.1243G→A、c.1910C→T序列变异,未发现RAB7和MTMR2基因的序列变异。其中LITAF基因c.269G→A、LMNA基因c.1243G→A和c.1910C→T为新发现的单核苷酸多态;LITAF基因c.274A→G为已知多态。说明LITAF、RAB7、LMNA和MTMR2基因突变在中国人CMT患者中罕见。The purpose of this study was to understand the mutation features of lipopolysaccharide-induced tumor necro-sis factor-alpha factor（LITAF）,ras-associated protein RAB7（RAB7）,lamin A/C（LMNA） and myotubularin-related protein 2（MTMR2） genes in Chinese Charcot-Marie-Tooth disease（CMT） patients.Mutation analysis of LITAF gene was carried out using PCR combined with DNA sequencing,and mutation analysis of RAB7 gene by PCR-single strand conformation polymorphism（PCR-SSCP） combined with DNA sequencing in 33 CMT patients including 6 probands of autosomal domi-nated CMT families and 27 sporadic patients;mutation analysis of LMNA and MTMR2 genes was observed using PCR-SSCP combined with DNA sequencing in 41 CMT patients,including 14 probands of autosomal recessive CMT fami-lies and 27 sporadic patients.Two sequence variations c.269G→A and c.274A→G were detected in LITAF gene and two sequence variations c.1243G→A and c.1910C→T were detected in LMNA gene.No sequence variation was found in RAB7 and MTMR2 gene.Variations of c.269G→A in LITAF gene and c.1243G→A,c.1910C→T in LMNA gene are newly found SNPs in this study.Variation of c.274A→G in LITAF gene is known SNP reported in SNP database.Mutations in LITAF,RAB7,LMNA,and MTMR2 genes are rare in Chinese CMT patients.

关 键 词：腓骨肌萎缩症 脂多糖诱导肿瘤坏死因子а(LITAF) Ras相关GTP结合蛋白7(RAB7) 核纤层蛋白A/C(LMNA) 肌管蛋白相关蛋白2(MTMR2) 基因突变 

分 类 号：R746[医药卫生—神经病学与精神病学]