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Complete mtDNA genomes reveal similar penetrances of maternally inherited type 2 diabetes in two Chinese families

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机构: [1]Laboratory for Conservation and Utilization of Bio-resources, Yunnan University, Kunming, Yunnan Province, China [2]Department of endocrinology, the Second People’s Hospital of Yunnan Province, Kunming, Yunnan Province, China [3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan Province, , China [4]State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan Province, China [5]KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming, Yunnan Province, China [6]Yunnan Institute of Digestive Disease, the First Affiliated Hospital of Kunming Medical University, Yunnan Province, China [7]Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
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关键词: diabetes haplogroup mitochondrial DNA multiple origins private mutations

摘要:
Previous work suggests that mitochondrial DNA (mtDNA) derived from the maternal genome has a close affinity with type 2 diabetes. This would support a familial pattern for type 2 diabetes. Thereby, we analyzed complete mtDNA genomes from two families, A and B, from Southwest China that demonstrated maternally inherited type 2 diabetes. Our data support that mtDNA lineages from families A and B belong to haplogroups A4 and D4h1, respectively. This suggests that maternally inherited type 2 diabetes with similar penetrances can arise in Chinese individuals with strikingly different maternal genetic backgrounds. Two private coding region mutations (G13759A in MT-ND5 and G15930A in tRNA-Thr) were identified in family B. Further evolutionary and phylogenetic analyses suggest that both these mutations have multiple origins and are unlikely to be disease causing.

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Q4 GENETICS & HEREDITY

影响因子: 最新[2023版] 最新五年平均 出版当年[2015版] 出版当年五年平均 出版前一年[2014版]

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第一作者机构: [1]Laboratory for Conservation and Utilization of Bio-resources, Yunnan University, Kunming, Yunnan Province, China [2]Department of endocrinology, the Second People’s Hospital of Yunnan Province, Kunming, Yunnan Province, China
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通讯机构: [1]Laboratory for Conservation and Utilization of Bio-resources, Yunnan University, Kunming, Yunnan Province, China [3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan Province, , China [4]State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan Province, China [5]KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming, Yunnan Province, China [*1]State Key Laboratory of Genetic Resource and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan Province, China
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