کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1970024 1538900 2010 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis
چکیده انگلیسی

ObjectivesThe Mediterranean and A(-) G6PD variants are particularly prevalent in Africa and Southern Europe. Our study was aimed to develop an assay for the rapid genotyping of these two variants by HRM.MethodsAfter PCR reactions corresponding to the G6PD Mediterranean (exon 6), G6PD (A-) (exon 4) and G6PD (A-) (exon 5) mutations, amplicons were submitted to HRM. This protocol was applied to a cohort of 132 patients suffering from sickle cell disease.ResultsWild, homozygous or hemizygous and heterozygous states were fully discriminated by HRM for all three mutations. HRM results were in total accordance with DNA sequencing for 22 patients of our cohort with a ‘A’ genotype: presence of the (A-) (exon 5) mutation but absence of the (A-) (exon 4) mutation.ConclusionsOur HRM protocols allow a rapid, simple and cost-effective screening of G6PD deficiency in patients originating from the Mediterranean and the African areas.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Biochemistry - Volume 43, Issues 1–2, January 2010, Pages 193–197
نویسندگان
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