The importance of β globin deletion analysis in the evaluation of patients with β thalassemia.
| Autor: | Mikula M; Department of Molecular Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 96690, USA. mario.x.mikula@questdiagnostics.com, Buller-Burckle A, Gallivan M, Sun W, Franklin CR, Strom CM |
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| Jazyk: | angličtina |
| Zdroj: | International journal of laboratory hematology [Int J Lab Hematol] 2011 Jun; Vol. 33 (3), pp. 310-7. Date of Electronic Publication: 2011 Jan 11. |
| DOI: | 10.1111/j.1751-553X.2010.01287.x |
| Abstrakt: | Introduction: Beta globin deletion/duplication analysis may serve as a useful adjunct to sequence analysis. Our purpose was to develop a robust assay for beta globin deletion/duplication analysis and determine its role in evaluating patients with beta thalassemia. Methods: A single tube semi-quantitative fluorescent PCR assay capable of detecting deletions and duplications in the beta globin cluster and the associated locus control region (LCR) was developed and validated. Results: Six hundred seventy one de-identified samples submitted for beta globin sequence analysis were tested for deletions and duplications of the beta globin cluster. Twenty-two deletions were detected (3%, 22/671). Seventeen of the 22 (82%) deletion samples were negative for mutations in the whole gene sequencing assay. For 5 of the samples, homozygous point mutations were inferred by beta globin sequencing. Among the deletions detected, 11 (50%) involved only the beta globin gene (5 covering the entire gene, 2 spanning the 5' end of the gene and 4 encompassing the 3' end of the gene). Ten samples (45%) were heterozygous delta-beta deletions spanning both the delta globin and beta globin genes. One patient with a single deletion had Hb Lepore. Conclusion: Beta globin deletion/duplication analysis is necessary to correctly identify the genotype in some patients being evaluated for beta thalassemia. (© 2011 Blackwell Publishing Ltd.) |
| Databáze: | MEDLINE |
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