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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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Journal of Diabetes Research |
| Online Access: | http://dx.doi.org/10.1155/2017/4683857 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Yinan Zhang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bfb82258508b441c857628cc92d39e7c |
| institution | Kabale University |
| issn | 2314-6745 2314-6753 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Diabetes Research |
| spelling | doaj-art-bfb82258508b441c857628cc92d39e7c2025-02-03T06:04:58ZengWileyJournal of Diabetes Research2314-67452314-67532017-01-01201710.1155/2017/46838574683857Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic PatientsYinan Zhang0Xiujuan Du1Xinqian Geng2Chen Chu3Huijuan Lu4Yixie Shen5Ruihua Chen6Pingyan Fang7Yanmei Feng8Xiaojie Zhang9Yan Chen10Yanping Zhou11Congrong Wang12Weiping Jia13The Metabolic Diseases Biobank, Center for Translational Medicine, Shanghai Key Laboratory of Diabetes, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Otolaryngology Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Ophthalmology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Ophthalmology, Shanghai First People’s Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai 200080, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaDepartment of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, ChinaObjective. 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.http://dx.doi.org/10.1155/2017/4683857 |
| spellingShingle | 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 Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients Journal of Diabetes Research |
| title | Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients |
| title_full | Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients |
| title_fullStr | Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients |
| title_full_unstemmed | Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients |
| title_short | Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients |
| title_sort | rapid detection of the mt3243a g mutation using urine sediment in elderly chinese type 2 diabetic patients |
| url | http://dx.doi.org/10.1155/2017/4683857 |
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