Rapid detection of common southeast Asian beta-thalassemia mutations by nonisotopic multiplex PCR-SSCP analysis.

Abstract excerpt

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...

Topics

• Asia, Southeastern
• Chromosome Mapping
• Humans
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• beta-Thalassemia