کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2827458 1162445 2011 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شناسی مولکولی
پیش نمایش صفحه اول مقاله
Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay
چکیده انگلیسی

Mutations of the TMPRSS6 gene are considered the major genetic factors for iron-refractory iron deficiency anemia (IRIDA). Artificial clone libraries containing 17 known mutations of the TMPRSS6 gene were used to develop a high-resolution melting (HRM) assay for the detection of 17 TMPRSS6 gene mutations. The melting temperatures and melting curves were able to distinguish the different genotypes of the 17 TMPRSS6 gene mutations. We used replicate experiments to evaluate the reproducibility of the assay, and the coefficients of variation were in the range 0.0091% to 0.0873%. A total of 145 Chinese patients with IDA were screened with this assay and no TMPRSS6 gene causative mutation was found in any patient. The HRM assay was proved to be rapid, accurate and cost-effective method to identify the TMPRSS6 gene mutations and can be used in the clinical diagnosis of IRIDA.


► Clone libraries containing 17 known TMPRSS6 mutations were constructed.
► A PCR/HRM assay for detection of the 17 known TMPRSS6 mutations was developed.
► The HRM assay was proved to be rapid, accurate, reliable and cost-effective.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Blood Cells, Molecules, and Diseases - Volume 47, Issue 3, 15 October 2011, Pages 198–204
نویسندگان
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