Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia-Reference-Cited by-同舟云学术

Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia

Published:2000-01-01 Issue:1 Volume:95 Page:360-362
ISSN:1528-0020
Container-title:Blood
language:en
Short-container-title:

Author:

Chong Samuel S.¹,Boehm Corinne D.¹,Higgs Douglas R.¹,Cutting Garry R.¹

Affiliation:

1. From the McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland; the Departments of Pediatrics and Obstetrics & Gynecology, National University of Singapore, Singapore; and the MRC Molecular Hematology Unit, Institute of Molecular Medicine, Oxford, England.

Abstract

Abstract -Thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease) or lethal (Hb Bart's hydrops fetalis). We have developed a reliable, single-tube multiplex–polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of -thalassemia. The assay allows simple, high throughput genetic screening for these common hematological disorders. (Blood. 2000;95:360-362)

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/95/1/360/1659884/360.pdf

Reference15 articles.

1. A review of the molecular genetics of the human α-globin gene cluster.;Higgs;Blood.,1989

2. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.;Kazazian Jr;Semin Hematol.,1990

3. Alpha-thalassemia in the four major aboriginal groups in Taiwan.;Ko;Hum Genet.,1993

4. Molecular characterization and PCR diagnosis of Thailand deletion of α-globin gene cluster.;Ko;Am J Hematol.,1998

5. The —THAI and —FIL determinants of α thalassemia in Taiwan.;Higgs;Am J Hematol.,1999

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