Rapid detection of common Southeast Asian β-thalassemia mutations by nonisotopic multiplex PCR-SSCP analysis

Shea Ping Yip, L. F. Fung, S. T H Lo

Research output: Journal article publicationJournal articleAcademic researchpeer-review

3 Citations (Scopus)

Abstract

This report describes the detection of seven β-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.
Original languageEnglish
Pages (from-to)104-108
Number of pages5
JournalGenetic Testing
Volume8
Issue number2
DOIs
Publication statusPublished - 1 Jun 2004

ASJC Scopus subject areas

  • Genetics(clinical)

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