کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1967101 1538739 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Asymmetric real-time PCR detection of BRCA1 5382insC mutation by melting curve analysis in the LightCycler
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Asymmetric real-time PCR detection of BRCA1 5382insC mutation by melting curve analysis in the LightCycler
چکیده انگلیسی

Background5382insC BRCA1 frameshift mutation is a common founder mutation for many populations worldwide and a high-risk allele for the development of hereditary breast and/or ovarian cancer. Our goal was to develop a novel, reliable and rapid method for its detection.MethodsWe developed an asymmetric real-time PCR method with hybridization probes in the LightCycler. Genotyping was performed by melting curve analysis.Results and conclusionsThe developed method was in concordance with reference methods when tested in 85 peripheral blood and 107 tumor DNA samples from Greek breast and/or ovarian cancer patients. The described method proved to be simple, cost-effective, easy to perform and rapid enough for routine use as a screening method in high-risk families and especially in the Greek, Slavic and Jewish populations where 5382insC mutation is the most common BRCA1 mutation.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 390, Issues 1–2, April 2008, Pages 141–144
نویسندگان
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