来自:中国糖尿病杂志 编辑:帕它木•莫合买提 木哈达斯•吐尔逊依明 |点击数:|2016-03-04
【摘要】 目的 寻找维吾尔族早发糖尿病(MODY)3家系先证者1α(HNF1α)基因的突变位点或多态性位点。 方法 抽提先证者基因组DNA,PCR扩增,Sanger测序肝细胞核因子1α(HNF1α)基因所有外显子和外显子与内含子拼接区。结果 筛查到12种基因多态性位点。其中,外显子1的17号密码子CTC-CTG为亮氨酸的同义突变(Leu17Leu),27号密码子ATC→CTC是亮氨酸替代异亮氨酸(Ile27Leu),为错义突变;外显子4的264号密码子GTC→GTT是缬氨酸的同义突变(Val264Val),在外显子7区459号密码子发现CTG→TTG为亮氨酸的同义突变(Leu459Leu),487号密码子AGC→AAC是丝氨酸变为天冬酰胺的错义突变(Ser 487 Asn);497号密码子发生了CAG→CAA,是谷氨酰胺的同义突变(Gln497Gln)。发现5个内含子区域的变异,即内含子1的IVS1nt-42G>A和IVS1nt-91A>G,内含子2的IVS2nt-23C>T,内含子5的IVS5nt+9C>G,内含子7的IVS7nt+7G>A,内含子9的IVS9nt-24G>T。 结论 exon4 V264V和exon7 Q497Q 为新发现的单核苷酸多态性位点,未检测到HNF1α基因的突变。
MODY3 gene analysis in an Uyghur patient with early onset diabetes
【Abstract】 Objective To investigate mutations in hepatocyte nuclear factor 1α(HNF-1α,MODY3) gene in an Uyghur patient with clinically diagnosis of maturity-onset diabetes of the young (MODY). Methods DNA of the patient was extracted. All exons ( exon 1 to 10) and flanking intron regions of the HNF1α gene were amplified by PCR and sequenced by Sanger methods. Results 12 variants in HNF-1α genes were identified. They are exon1 p.Leu17Leu (synonymous mutation), exon1 p.Ile27Leu(nonsynonymous mutation), Exon4 p. Val264Val(synonymous mutation), Exon7 p.Leu459Leu(synonymous mutation), Exon7 p.Ser487Asn(nonsynonymous mutation) , Exon7 p.Gln497Gln (synonymous mutation), intron1 IVS1nt-42 G>A, Intron1 IVS1nt-91 A>G, Intron2 IVS2nt-23 C>T, Intron5 IVS5nt+9 C>G, Intron7 IVS7nt+7 G>A, and Intron9 IVS9nt-24 G>T. Conclusion Exon4 V264V and exon7 Q497Q were two newly discovered variants in HNF-1αgene. No pathogenic mutations were found in HNF-1α.
【Key words】 Maturity-onset diabetes of the young (MODY); Polymorphism; Mutations; Uyghur
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