SMARCA1基因组结构鉴定及其在Smith-Fineman-Myers综合征家系中的突变分析  

Characterization of Genomic Structure and Mutation Analysis of SMARCA1 Gene in a Smith-Fineman-Myers syndrome family

作　　者：刘奇迹[1] 龚瑶琴[1] 张锡宇[1] 高贵敏[1] 郭亦寿[1] 

机构地区：[1]山东大学医学院医学遗传学研究所,济南250012

出　　处：《Acta Genetica Sinica》2004年第2期114-118,共5页

基　　金：国家重点基础研究发展规划项目(编号 :2 0 0 1CB51 0 30 3);国家杰出青年基金项目资助(编号 :30 2 2 50 2 0 )~~

摘　　要：为探讨SMARCA1基因在中国山东SFMS家系患者发生中的作用 ,采用计算机杂交结合DNA序列分析方法 ,首先确定了SMARCA1基因的基因组结构 ,发现该基因的基因组DNA全长超过 71 7kb ,含有 2 4个外显子和 2 3个内含子 ,所有外显子和内含子接头皆遵循GT AG法则 ,基因组结构的阐明 ,为进行基因突变检测和分析其生物学功能奠定了基础。在以上分析的基础上 ,通过PCR扩增结合测序分析 ,对在山东省发现的 1个SFMS家系患者的SMARCA1基因的全部外显子和外显子内含子接头序列进行了基因突变检测 ,未检测到导致疾病的突变 。The study is to determine the genomic structure and the role of SMARCA1(SWI/SNF-related,matrix-associated,actin-dependent regulator of chromatin,subfamily A,member1,SMARCA1) in the etiology of Smith-Fineman-Myers syndrome (SFMS).By comparing the cDNA sequence of SMARCA1 with the genomic sequences,genomic structure of SMARCA1 was determined,and conformed by amplifying and sequencing the sequences of exons and splicing junction.The results show that the genomic sequence of SMARCA1 gene exceeds 71.7 kb in length,and contains 24 exons and 23 introns.All the exon/intron boundaries follow the GT-AG rule and are in good agreement with the exon/intron consensus sequence.The characterization of genomic structure of SMARCA1 gene allows us to detect disease -causing mutation within the gene and further study its biological function.The open reading frame of SMARCA1 was detected for mutation by PCR amplification and direct sequencing in affected males from SFMS family in Shandong China.The disease in SFMS family from Shandong is not caused by the mutation within open reading frame of SMARCA1 gene.

关 键 词：SMARCA1基因 Smith-Fineman-Myers综合征 基因组结构 突变分析 

分 类 号：R394[医药卫生—医学遗传学]