Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients

Objective. In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. Methods. DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of h...

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Bibliographic Details
Published in:Journal of diabetes research 2017-01, Vol.2017 (2017), p.1-7
Main Authors: Feng, Yanmei, Chen, Yan, Zhou, Yanping, Wang, Congrong, Jia, Weiping, Fang, Pingyan, Chen, Ruihua, Shen, Yixie, Lu, Huijuan, Chu, Chen, Geng, Xinqian, Du, Xiujuan, Zhang, Yinan, Zhang, Xiaojie
Format: Article
Language:English
Subjects:
Age
Aged
Antigens
Asian Continental Ancestry Group - genetics
Body mass index
China
Cholesterol
Creatinine
Deoxyribonucleic acid
Diabetes
Diabetes Mellitus, Type 2 - genetics
Diabetic retinopathy
DNA
DNA Mutational Analysis
Fasting
Female
Genetic testing
Glucose
Hearing loss
Humans
Magnetic resonance imaging
Male
Middle Aged
Mitochondrial DNA
Mutation
Older people
Patients
Peptides
Plasma
Questionnaires
RNA, Transfer, Leu - genetics
Sediments
Urine
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Summary:Objective. In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. Methods. DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of heteroplasmy were performed by high-resolution melting (HRM) curve and pyrosequencing, respectively. Patients with mt3243A > G mutation underwent a detailed audiometric, ophthalmologic, neurological, and cardiac examination. Results. Two patients (2/1041) carrying the mt3243A > G mutation were detected among all type 2 diabetic patients. In patient 1, the heteroplasmy was 0.8%, 2.8%, and 14.7% in peripheral blood leukocytes, saliva, and urine sediment, respectively. In patient 2, the heteroplasmy was 5.3%, 8.4%, and 37.7% in peripheral blood leukocytes, saliva, and urine sediment, respectively. Both of the two patients showed hearing impairment. Abnormal ophthalmologic conditions and hyperintensity on T2-weighted magnetic resonance images were showed in patient 1. Conclusion. The occurrence of mt3243 A > G mutation was 0.2% in Chinese elderly type 2 diabetic patients. Moreover, detection of mt3243 A > G mutation in urine sediment with high-resolution melting (HRM) curve and pyrosequencing is feasible in molecular genetic diagnosis.
ISSN:2314-6745
2314-6753
DOI:10.1155/2017/4683857