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[Study on the mitochondrial DNA mutations in familial diabetes mellitus in Chinese population].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

February 2009

Department of Endocrinology, Clinical Geriatric Division, the Peopleos Hospital of Henan Province, Zhengzhou, Henan, 450003 PR China.

Objective: To assess the prevalence of mutations or variants of the mitochondrial DNA (mtDNA) in familial diabetes mellitus in Chinese population, and to explore the relationship between mtDNA mutations or variants and diabetes.

Methods: Seven hundred and seventy randomly selected, unrelated probands of diabetes pedigrees and 309 controls over 60 years of age with normal glucose tolerance were recruited. PCR-RFLP and PCR-direct sequencing were applied to the screening of mtDNA mutations or variants, including the mutations at nucleotides 3243, 3256 in tRNALeu region, 12258 in tRNASer region, 14709 in tRNAGlu region, 8296, 8344, 8363 in tRNALys region, 3316, 3394, 3426 in ND1 region and 12026 in ND4 region.

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