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Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients
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نویسنده
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zhang y. ,du x. ,geng x. ,chu c. ,lu h. ,shen y. ,chen r. ,fang p. ,feng y. ,zhang x. ,chen y. ,zhou y. ,wang c. ,jia w.
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منبع
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journal of diabetes research - 2017 - دوره : 2017 - شماره : 0
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چکیده
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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. © 2017 yinan zhang et al.
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آدرس
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metabolic diseases biobank,center for translational medicine,shanghai key laboratory of diabetes,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of otolaryngology head and neck surgery,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of neurology,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of ophthalmology,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of ophthalmology,shanghai first people's hospital affiliated to shanghai jiao,tong university school of medicine,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China, department of endocrinology and metabolism,shanghai key laboratory of diabetes,metabolic diseases biobank,shanghai jiao tong university affiliated sixth people's hospital,shanghai, China
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Authors
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