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Hematology. 2014 Mar;19(2):80-4. doi: 10.1179/1607845413Y.0000000096. Epub 2013 Nov 25.

Rapid and inexpensive detection of common HBB gene mutations in Tunisian population by high-resolution melting analysis: implication for molecular diagnosis.

Abstract

In Tunisia, β-thalassemia is a common hereditary disease with a carrying rate of 2.21%. Up to now, detection of responsible mutations was made by laborious, expensive, and/or time consuming methods. The aim of this study is to develop and validate a specific assay for detection of the two most frequent mutations in Tunisian population, the IVS-I-110 (G → A) and Cd39 (C → T) mutations. In this study, we optimize high resolution melting analysis (HRMA) conditions for these mutations, using control DNAs. Then, we evaluate the strength of this methodology by screening a cohort of patients with β-thalassemia. All examined reference DNA samples were unambiguously distinguished from each other. For the blinded test, the results were completely compatible with direct sequencing, performed after the HRMA. As HRMA represents a highly sensitive and high-throughput gene scanning method, it can provide timely diagnosis at low cost for effective clinical management of β-thalassemia.

KEYWORDS:

Common mutations; HBB gene; High-resolution melting; Molecular diagnosis; Mutation analysis; β-Thalassemia

PMID:
23683733
DOI:
10.1179/1607845413Y.0000000096
[Indexed for MEDLINE]

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