3个早发糖尿病家系HNF1α基因筛查研究

发布时间：2018-02-16 15:12

  本文关键词： 青少年的成人起病型糖尿病(MODY) HNFα RS 突变 多态性　出处：《糖尿病新世界》2017年05期 　论文类型：期刊论文

【摘要】：目的通过对3个疑为MODY3的早发糖尿病家系成员HNF1α基因分子筛查,探讨该基因分子缺陷是否为其主要发病因素。方法抽取家系成员外周血,应用聚合酶链式反应技术对HNF1ɑ基因全部外显子及外显子内含子拼接区进行扩增,PCR产物直接测序,测序结果与NCBI数据库中标准序列比对分析。结果发现3个编码区错义突变:R272S、I27L、S487N,2个同义突变:I17L、L459L,6个非编码区碱基改变:IVS1+91AG、IVS5+9CG、IVS7+7GA、IVS8-24TC、IVS9+197GT、IVS9+438GA。R272S在F1家系中的分布与糖尿病的发生共分离;除R272S外的其他碱基改变均为多态性改变,且和糖尿病的发生无明显相关性。结论该研究发现10个多态性位点;R272S突变在F1家系中与糖尿病的发生共分离,初步判断该家系是由突变R272S导致的MODY3家系。
[Abstract]:Objective to investigate whether the molecular defect of HNF1 伪 gene is the main cause of early onset diabetes mellitus (MODY3) by molecular sieve detection of HNF1 伪 gene in three suspected early onset diabetic pedigrees. Methods Peripheral blood samples were drawn from the family members. Polymerase chain reaction (PCR) was used to amplify all exons and intron splicing regions of HNF1 gene. The results of sequencing and standard sequence alignment analysis in NCBI database showed that the missense mutation of three coding regions: R272Sn I27LN S487N, two synonymous mutations: I17L1 L459L, and six non-coding regions, the base changes of 6 noncoding regions, IVS7, GAIVS8-24TCU, IVS9, 197GTIVS9, 438GA.R272S, were separated from the occurrence of diabetes mellitus in F1 families. All the base changes except R272S were polymorphic, and there was no significant correlation between R272S mutation and diabetes mellitus. Conclusion in this study, 10 polymorphic loci were found to be coisolated from the occurrence of diabetes in F1 families. It was preliminarily determined that the pedigree was caused by mutation R 272S in MODY3 pedigree.
【作者单位】： 济南大学山东省医学科学院医学与生命科学学院;山东省内分泌与代谢病研究所;
【基金】：基金项目:山东省医学科学院医药卫生科技创新工程
【分类号】：R587.1
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本文编号：1515807