人类3-磷酸甘油脱氢酶1基因第三外显子的单核苷酸多态性研究  

Single nucleotide polymorphisms in the third exon of human glycerol 3-phosphate dehydrogenase 1(GPD1) gene

作　　者：贺庆华[1] 张庆莲[2] 徐开阔[3] 

机构地区：[1]西南民族大学生命科学与技术学院,成都610041 [2]成都医学院医学检验系,成都610083 [3]四川大学计算机学院,成都610065

出　　处：《四川大学学报（自然科学版）》2008年第4期959-962,共4页Journal of Sichuan University(Natural Science Edition)

基　　金：四川省教育厅资助科研项目(2005B052)

摘　　要：通过基因组克隆和测序技术,研究人类3-磷酸甘油脱氢酶基因(glycerol 3-phosphatedehydrogenase 1,简称GPD1)第三外显子的单核苷酸多态性(single nucleotide polymorphism,简称SNP)情况.发现成都地区人类GPD1的第三外显子上存在4个SNP位点,分别为G69A,G81A,A121C和A127T,其中G81A和A121C为已经报道过的SNP,G69A和A127T为新发现的SNP.在这些SNP中,A121C和A127T会引起氨基酸的改变,分别为Thr113Pro和Ile115Leu.通过分子建模的方法分析这两个错义突变对GPD1蛋白分子结构的影响,发现113位氨基酸残基的替换为极性氨基酸苏氨酸和非极性氨基酸脯氨酸之间的转换,而且113位氨基酸残基暴露于蛋白分子表面,所以该突变可能会对蛋白分子的性质和功能造成一定的影响.In order to identify single nucleotide polymorphisms （SNP） in the third exon of glycerol 3-phosphate dehydrogenase 1 （GPD1）, the third exon of GPD1 was cloned and sequenced from 138 blood samples. A total of 4 SNPs were found in Han Chinese of Chengdu area, they were G69A, G81A, A121C and A127T. Among them, G81A and A121C were reported and had records at NCBI, G69A and A127T were novel ones. The two SNPs A121C and A127T can cause amino acid substitutions; they were Thrll3Pro and Ile115Leu separately. In order to analyze the effects of the two missense mutations to GPD1 protein molecular, molecular modeling methods were used to locate the mutation sites in the protein molecular. The results show that the substitutions at site 113 was non-polar residues to polar residues and the residues at site 113 located at molecular surface and was .solvent exposed, so Thr113Pro substitution have the possibilities to affect protein character and function.

关 键 词：GPD1 SNP 分子建模 

分 类 号：Q75[生物学—分子生物学]