کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1971453 1059857 2009 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis
چکیده انگلیسی

ObjectivesSCN5A mutations lead to a wide spectrum of cardiovascular disorders. Due to large cohorts to investigate and the large gene size, mutational screening must be performed using an extremely sensitive and specific scanning method.Design and methodsHigh Resolution Melting (HRM) analysis was developed for SCN5A mutation detection using control DNAs and DNAs carrying previously identified gene variants. A cohort of 40 patients was further screened. To evaluate HRM sensitivity, this cohort was also screened using an optimized DHPLC methodology.ResultsAll gene variants detected by DHPLC were also readily identified as abnormal by HRM analysis. Mutations were identified for 5 patients. Complete molecular SCN5A investigation was completed two times faster and cheaper than using DHPLC strategy.ConclusionsHRM analysis represents an inexpensive, highly sensitive and high-throughput method to allow identification of SCN5A gene variants. Identification of more SCN5A mutations could provide new insights into the pathophysiology of SCN5A-linked diseases syndromes.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Biochemistry - Volume 42, Issue 6, April 2009, Pages 491–499
نویسندگان
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