MSX1基因在物种间的变异性研究  

Study on the mutation of MSX1 gene among different species

作　　者：阴旭斌[1] 陈显久[1] 南欣荣[1] 

机构地区：[1]山西医科大学口腔医学系,太原030001

出　　处：《山西医科大学学报》2008年第7期588-593,共6页Journal of Shanxi Medical University

摘　　要：目的对人MSX1基因的cDNA序列和氨基酸序列进行综合分析,为其致病性突变位点的研究和非综合征性唇腭裂的病因学研究奠定理论基础。方法从国际生化技术信息中心(NCBI)的Genbank数据库中调取人MSX1基因和全氨基酸序列,利用序列综合分析软件DNAMAN、GENtle对人MSX1的基因序列和氨基酸序列进行综合分析。结果人MSX1基因全长1944bp,其编码区在247-1140之间,共894bp,其蛋白质序列为298个氨基酸。MSX1蛋白的疏水性氨基酸残基分布于N端、中间14个区段和C端远区,MSX1蛋白的亲水性区域分布于分子中间10个区段。人与黑猩猩的MSX1基因100%相同,与其他物种的MSX1基因的一致性最大为90%(犬)。同时,发现8个物种的MSX1基因中有452个碱基序列在不同物种间完全一致(占50.56%),另有91个碱基基本一致(占10.18%)。但是,不同物种间MSX1基因的氨基酸序列差异很大,8个物种间没有完全一致的氨基酸残基,基本一致的氨基酸残基只有11个(占3.74%)。结论MSX1基因或蛋白在不同物种间的变异较大,突变位点较多,探求MSX1基因/蛋白位点突变与非综合征性唇腭裂的关系需重新审视和认识。Abstract： Objective To provide a theoretical foundation for studying the aetiologic mutational loci of MSX1 and the etiology of the non-syndromic cleft lip and/or palate by analyzing the cDNA sequence and amino acid sequence of human MSX1 gene. Methods The full gene sequence and amino acid sequence of human MSX1 gene were obtained from NCBI, and analyzed comprehensively using software DNAMAN and GENtle, respectively. Results The full length of the human MSX1 gene was 1 944 bp. The translated region comprised 894 bp which was on the loci 247 - 1140, and the protein sequence included 298 amino acids. Hydrophobic amino acids were located in the N polar region, far distance of C terminal, and 14 regions in the middle of the full sequence. Hydrophilic amino acids were in 10 regions in the middle of protein sequence. The homology between human and gorilla was 100 %, and the maximum of gene similarity with other species was 90 % （cards）. At the same time, 452 bp were stable among MSX1 gene sequences in 8 species （account for 50.56 % ）, and the numbers of similar base pairs were 91 （10.18 % ）. However, MSX1 gene in 8 species had no complete identical amino acid sequences, and only 11 nucleotides were basically identical（account for 3.74 % ）. Conclusion Amino acid or protein sequences of MSX1 gene in 8 species have great difference and a batch of mutational loci. It is significant to reconsider and reassure the relationship between the mutation of MSX1 and non-syndromic cleft lip and/or palate.

关 键 词：MSX1 CDNA序列 氨基酸序列 非综合征性唇腭裂 

分 类 号：Q819[生物学—生物工程]