IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
Prevalence and clinical characteristics of mitochondrial tRNA leu ((UUR)) mt 3243 A -> G and ND -> 1 gene mt 3316 G -> A mutations in Chinese patients with type 2 diabetes
Ji, LN; Hou, XM; Han, XY
关键词diabetes mitochondrial gene mutation
刊名CHINESE MEDICAL JOURNAL
2001-11-01
114期:11页:1205-1207
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
关键词[WOS]TRNA(LEU(UUR)) GENE ; MELLITUS ; DNA
英文摘要

Objective To assess the prevalence of mitochondrial tRNA leu(UUR) gene mt 3243 A --> G mutation and ND-1 gene mt 3316 G -->A mutation in Chinese type 2 diabetes.

Methods 716 randomly selected, unrelated patients with type 2 diabetes were screened for the mutation with a PCR-RFLP technique.

Results Three individuals with mitochondrial tRNA leu (UUR) gene mt 3243 A-G mutation were identified, representing approximately 0.4% of the type 2 patients screened. Further screening of first-degree relatives of these 3 patients identified another 4 affected carriers. In comparison with type 2 diabetic patients without the mutation, these 7 carriers of the mt3243 mutation had: 1) an earlier diagnosis age of diabetes (38.0 +/- 10.1 year vs 53.4 +/- 10.0 year, P < 0.001); 2) lower Body Mass Index (BMI) (19.5 +/- 2.0 kg/m(2) vs 24.9 +/- 10.9 kg/m(2), P < 0.0001); and 3) lower post-challenge insulin levels (Area under the curve of insulin levels during the Oral Glucose Tolerance Test (OGTT), 2946 +/- 1647.2 mu lU (.) ml(-1) vs 7469 +/- 6647.7 mu lU (.) ml(-1) P < 0.01). ND-1 gene mt 3316 G -->A mutation was found in 16 patients with type 2 diabetes (2.2%) and 5 out 181 controls (2.7%) with normal glucose tolerance. Therefore, the frequency of the mutation was not different in patients and controls. Moreover, clinical characteristics such as age of onset of diabetes, BMI, and insulin levels were not different between diabetic patients with the mt 3316 mutation and those without it.

Conclusions In this large cohort of Chinese Type 2 diabetes, the prevalence of mitochondrial tRNA leu (UUR) gene mt 3243 A -->G mutation was 0.4%, and the ND-1 gene mt 3316 G -->A mutation is a polymorphism unrelated to diabetes.

语种英语
WOS记录号WOS:000172271500020
Citation statistics
Cited Times:6[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60253
Collection北京大学第二临床医学院
作者单位Beijing Med Univ, Peoples Hosp, Dept Endocrinol & Metab, Beijing 100044, Peoples R China
Recommended Citation
GB/T 7714
Ji, LN,Hou, XM,Han, XY. Prevalence and clinical characteristics of mitochondrial tRNA leu ((UUR)) mt 3243 A -> G and ND -> 1 gene mt 3316 G -> A mutations in Chinese patients with type 2 diabetes[J]. CHINESE MEDICAL JOURNAL,2001,114(11):1205-1207.
APA Ji, LN,Hou, XM,&Han, XY.(2001).Prevalence and clinical characteristics of mitochondrial tRNA leu ((UUR)) mt 3243 A -> G and ND -> 1 gene mt 3316 G -> A mutations in Chinese patients with type 2 diabetes.CHINESE MEDICAL JOURNAL,114(11),1205-1207.
MLA Ji, LN,et al."Prevalence and clinical characteristics of mitochondrial tRNA leu ((UUR)) mt 3243 A -> G and ND -> 1 gene mt 3316 G -> A mutations in Chinese patients with type 2 diabetes".CHINESE MEDICAL JOURNAL 114.11(2001):1205-1207.
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