Objective To ascertain the prevalence and clinical features of mitochondrial tRNA Leu(UUR) gene nucleotide (nt) 3243 A→G mutation diabetes mellitus in Chinese and to establish the approaches for genetic diagnos...Objective To ascertain the prevalence and clinical features of mitochondrial tRNA Leu(UUR) gene nucleotide (nt) 3243 A→G mutation diabetes mellitus in Chinese and to establish the approaches for genetic diagnosis of this subtype of diabetes during routine daily clinical practice. Methods Mitochondrial nt 3243 A→G mutation was screened among 207 unrelated non insulin dependent diabetes mellitus (NIDDM) patients by using polymerase chain reaction (PCR)/Apa Ⅰ restriction endonuclease digestion. Samples with positive result were confirmed by DNA sequence analysis. Genetic and clinical analysis were carried out in family members of the proband with positive genetic diagnosis. Results Positive results were found in two subjects during screening of unrelated NIDDM patients, which account for 2.4% 11.1% of NIDDM subjects with uncommon clinical features (with early age of onset, with low body mass index and on insulin therapy) or with positive family history of diabetes consistent with or unable to exclude from maternal inheritance. Genetic diagnosis was positive in 10 out of 25 famliy members in the pedigrees of these two probands. Conclusions Mitochondrial tRNA Leu(UUR) gene nt 3242 A→G mutation should be considered in diabetic patients with the above mentioned clinical features. The genetic diagnosis in daily clinical practice can be performed with allele specific priming amplification, or PCR/Hae Ⅲ or Apa Ⅰ digestion which are technically simple to perform and diagnostically easy to define.展开更多
文摘Objective To ascertain the prevalence and clinical features of mitochondrial tRNA Leu(UUR) gene nucleotide (nt) 3243 A→G mutation diabetes mellitus in Chinese and to establish the approaches for genetic diagnosis of this subtype of diabetes during routine daily clinical practice. Methods Mitochondrial nt 3243 A→G mutation was screened among 207 unrelated non insulin dependent diabetes mellitus (NIDDM) patients by using polymerase chain reaction (PCR)/Apa Ⅰ restriction endonuclease digestion. Samples with positive result were confirmed by DNA sequence analysis. Genetic and clinical analysis were carried out in family members of the proband with positive genetic diagnosis. Results Positive results were found in two subjects during screening of unrelated NIDDM patients, which account for 2.4% 11.1% of NIDDM subjects with uncommon clinical features (with early age of onset, with low body mass index and on insulin therapy) or with positive family history of diabetes consistent with or unable to exclude from maternal inheritance. Genetic diagnosis was positive in 10 out of 25 famliy members in the pedigrees of these two probands. Conclusions Mitochondrial tRNA Leu(UUR) gene nt 3242 A→G mutation should be considered in diabetic patients with the above mentioned clinical features. The genetic diagnosis in daily clinical practice can be performed with allele specific priming amplification, or PCR/Hae Ⅲ or Apa Ⅰ digestion which are technically simple to perform and diagnostically easy to define.
