rapid detection of the mt3243a > g mutation using urine sediment in elderly chinese type 2 diabetic patients
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2017
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Abstract
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.
| Reference Key |
zhang2017journalrapid
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| Authors | ;Yinan Zhang;Xiujuan Du;Xinqian Geng;Chen Chu;Huijuan Lu;Yixie Shen;Ruihua Chen;Pingyan Fang;Yanmei Feng;Xiaojie Zhang;Yan Chen;Yanping Zhou;Congrong Wang;Weiping Jia |
| Journal | applied computer science |
| Year | 2017 |
| DOI |
10.1155/2017/4683857
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