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Title: Rapid differentiation of five common α-thalassemia genotypes by polymerase chain reaction
Authors: Delia C. Tang
Suthat Fucharoen
Ivan Ding
Griffin P. Rodgers
National Institutes of Health, Bethesda
The Institute of Science and Technology for Research and Development, Mahidol University
National Institute of Diabetes and Digestive and Kidney Diseases
Keywords: Medicine
Issue Date: 1-Jan-2001
Citation: Journal of Laboratory and Clinical Medicine. Vol.137, No.4 (2001), 290-295
Abstract: The α-thalassemias are common genetic disorders that arise from reduced synthesis of the α-globin chains. At present, large-scale carrier screening and clinically valuable antenatal detection programs have not been established for the congenital disorder α-thalassemia (α-thal). We have developed a simple nonradioactive polymerase chain reaction (PCR) approach that can detect and differentiate several common α-globin gene deletional α-thals regardless of the break points. When three primer sets wereused - two gene-specific sets for the α1- and α2-globin genes and one set for the β-actin gene (serving as an internal control) - PCR products from genomic DNA were simultaneously amplified and analyzed after coamplification and gel electrophoresis. The number of α-globin genes present in the subjects was determined by the intensity of α1and α2bands normalized with that of β-actin when using densitometry. Our results demonstrate that five common genotypes of deletional α-thal are differentiated by the ratios of α1/β-actin and α2/β-actin. We also examined the feasibility of coupling this allele-specific amplification to a color-complementary assay. This easy and reproducible PCR assay is suitable for identifying α-thal carriers in screenings of large populations and improving genetic counseling.
ISSN: 00222143
Appears in Collections:Scopus 2001-2005

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