Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/30462
Title: Rapid detection of common southeast Asian beta-thalassemia mutations by nonisotopic multiplex PCR-SSCP analysis
Authors: Yip, SP 
Fung, LF
Lo, STH
Issue Date: 2004
Publisher: Mary Ann Liebert Inc Publ
Source: Genetic testing, 2004, v. 8, no. 2, p. 104-108 How to cite?
Journal: Genetic Testing 
Abstract: This report describes the detection of seven beta-thalassemia mutations common in Southeast Asia by amplifying three short PCR fragments in two separate tubes, followed by single-strand conformation polymorphism (SSCP) analysis in single lanes. These mutations are -28 A --> G, codon 17 A -->, T, IVS1 + 5 G --> C, codon 41/42 -CTTT, codon 43 G --> T, codon 71/72 + A, and IVS2 + 654 C --> T, and account for 70% to over 95% of the cases in this region. This rapid nonisotopic method was also found capable of detecting other mutations within the amplified fragments. It is simple, rapid, and cheap, and thus suitable for carrier screening and prenatal diagnosis in Southeast Asia.
URI: http://hdl.handle.net/10397/30462
ISSN: 1090-6576
DOI: 10.1089/gte.2004.8.104
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