TY - JOUR
T1 - Rapid detection of common Southeast Asian β-thalassemia mutations by nonisotopic multiplex PCR-SSCP analysis
AU - Yip, Shea Ping
AU - Fung, L. F.
AU - Lo, S. T H
PY - 2004/6/1
Y1 - 2004/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=4143056865&partnerID=8YFLogxK
U2 - 10.1089/1090657041797301
DO - 10.1089/1090657041797301
M3 - Journal article
C2 - 15345105
SN - 1090-6576
VL - 8
SP - 104
EP - 108
JO - Genetic Testing
JF - Genetic Testing
IS - 2
ER -