本文關鍵詞： 青少年的成人起病型糖尿病(MODY) HNFα RS 突變 多態(tài)性　出處：《糖尿病新世界》2017年05期 　論文類型：期刊論文

【摘要】：目的通過對3個疑為MODY3的早發(fā)糖尿病家系成員HNF1α基因分子篩查,探討該基因分子缺陷是否為其主要發(fā)病因素。方法抽取家系成員外周血,應用聚合酶鏈式反應技術對HNF1ɑ基因全部外顯子及外顯子內含子拼接區(qū)進行擴增,PCR產(chǎn)物直接測序,測序結果與NCBI數(shù)據(jù)庫中標準序列比對分析。結果發(fā)現(xiàn)3個編碼區(qū)錯義突變:R272S、I27L、S487N,2個同義突變:I17L、L459L,6個非編碼區(qū)堿基改變:IVS1+91AG、IVS5+9CG、IVS7+7GA、IVS8-24TC、IVS9+197GT、IVS9+438GA。R272S在F1家系中的分布與糖尿病的發(fā)生共分離;除R272S外的其他堿基改變均為多態(tài)性改變,且和糖尿病的發(fā)生無明顯相關性。結論該研究發(fā)現(xiàn)10個多態(tài)性位點;R272S突變在F1家系中與糖尿病的發(fā)生共分離,初步判斷該家系是由突變R272S導致的MODY3家系。
[Abstract]:Objective to investigate whether the molecular defect of HNF1 偽 gene is the main cause of early onset diabetes mellitus (MODY3) by molecular sieve detection of HNF1 偽 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.
【作者單位】： 濟南大學山東省醫(yī)學科學院醫(yī)學與生命科學學院;山東省內分泌與代謝病研究所;
【基金】：基金項目:山東省醫(yī)學科學院醫(yī)藥衛(wèi)生科技創(chuàng)新工程
【分類號】：R587.1
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本文編號：1515807