Heteroplasmy Level of the Mitochondrial tRNA^Leu（UUR） A3243G Mutation in a Chinese Family Is Positively Associated with Earlier Age-of-onset and Increasing Severity of Diabetes

• Published in: Chinese medical sciences journal Vol. 24; no. 1; pp. 20 - 25
• Main Author: Shi Zhang An-li Tong Yun Zhang Min Nie Yu-xiu Li Heng Wang
• Format: Journal Article
• Language: English
• Published: 2009
• Subjects: G突变; 中国家庭; 异质性; 糖尿病; 线粒体tRNA

Objective To investigate the mutations of mitochondrial genome in a pedigree with suspected maternally inherited diabetes and deafness and to explore the correlations between the mutations and clinical features. Methods Genomic DNA was isolated from blood leucocytes of each member of the pedigree. T...