| | | | | 携带线粒体DNA ND4区12026A→G点突变的糖尿病家系临床特点 | | | 李明珍;于德民;刘德敏 | | | 目的在以往工作的基础上,分析线粒体基因ND412026A→G突变的糖尿病家系临床特点。方法两个携带此点突变的家系共25人,收集相应临床资料,提取外周血基因组DNA,以PCR-RFLP法检测线粒体基因ND4区np12026突变,并分析其临床特征。结果两个家系中共发现13例该点突变,发现5例糖尿病患者,3例甲亢患者(其中1例合并糖尿病),未发现耳聋。结论线粒体基因ND412026A→G突变携带者的家系临床表现多样,并可能与自身免疫相关。
【作者单位】：天津医科大学代谢病医院;天津医科大学代谢病医院;天津医科大学代谢病医院
【关键词】：基因突变线粒体;家系,糖尿病
【分类号】：R587
【DOI】：CNKI:SUN:ZGTL.0.2008-05-003
【正文快照】：
近年来,学者将线粒体基因突变糖尿病归为导致胰岛β细胞功能缺陷的特殊类型,即MIDD,并发现与之密切相关的多种线粒体基因突变。我们在天津地区糖尿病患者中发现线粒体DNA包括12026在内的5个点突变的同时[1],进一步展开家系研究,了解其发病规律和临床特征。对象与方法一、对象: | | |
| | |  推荐 CAJ下载  PDF下载 | | | CAJViewer7.0阅读器支持所有CNKI文件格式，AdobeReader仅支持PDF格式 | | | | Clinical characteristics of diabetic pedigree with mtDNA 12026 A→G mutation in ND4 region | | | LI Ming-zhen;YU De-min;LIU De-min.Metabolic Disease Hospital of Tianjin Medical University;Tianjin 300070;China | | | Objective To investigate clinical traits of 2 families members habouring mtDNA 12026A→G mutation based on our previous studies.Methods 25 members in 2 families with probands with mtDNA 12026 mutation were examined.All their clinical and biochemical data were collected.Total genome was extracted conventionally from peripheral leucocytes of all participants,and PCR-RFLP techniques were applied to screen A to G substitution at nucleotide 12026 of mtDNA in ND4 region.Results We found 13 individuals habouring the 12026 A→G mutation in 2 pedigrees,all without deafness.Among them,5 with diabetes were found.Interestingly,we found 3 individuals with hyperthyroidism in one family(one also combined with diabetes).Conclusions Our findings suggest that diabetic families with mtDNA 12026 A→G mutation in ND4 region can have different clinical pictures,and may involve in autoimmune diseases.
【Keyword】：Mitochondrial DNA mutation;Pedigrees,diabetes |
| | | | | | 1 | 于珮,于德民,刘德敏; 线粒体DNA ND1基因nt3394 T→C突变与老年人2型糖尿病 [J]; 中华老年医学杂志; 2003年03期 | | 2 | 任艳,李秀钧,田浩明,梁荩忠,韩令川,张翔迅,喻红霖,余叶蓉,刘瑞,赵桂芝,王嘉南; 线粒体糖尿病家系基因突变的遗传学筛查 [J]; 中华医学遗传学杂志; 2003年03期 |
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