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Title: Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction
Authors: Supan Fucharoen
Goonnapa Fucharoen
Winionman Sriroongrueng
Vichai Laosombat
Arunee Jetsrisuparb
Sutthipan Prasatkaew
Voravarn S. Tanphaichitr
Vinai Suvatte
Soodsarkorn Tuchinda
Yasuyuki Fukumaki
Kyushu University
Khon Kaen University
Prince of Songkla University
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Dec-1989
Citation: Human Genetics. Vol.84, No.1 (1989), 41-46
Abstract: β-Thalassemia mutations in 71 chromosomes of Thai patients from the northeast, the middle and the south of the country were investigated using dot blot hybridization of PCR (polymerase chain reaction)-amplified DNA with allelespecific oligonucleotide probes. Eight different known molecular defects were detected, at different frequencies. There was an amber mutation in codon 17, a C-T transversion at position 654 of IVS-2, a frameshift mutation between codons 71 and 72, an A-G transition at nucleotide -28 within the TATA box (known as Chinese mutations), a G-T transversion at position 1 of IVS-1 (an Indian mutation), a 4bp deletion in codons 41/42 and a G-C transversion at position 5 of IVS-1 (described as both Chinese and Indian mutations) and a Thai original mutation, an ochre mutation in codon 35. Analysis of the three unknown alleles by DNA sequencing of the cloned DNA fragment amplified by PCR revealed an A-G substitution at the second position of the codon for amino acid 19 (AAC-AGC). The analytic approach used in the present study and the characteristic distribution of mutations in each region of Thailand will prove useful for setting up a prenatal diagnosis program. © 1989 Springer-Verlag.
ISSN: 14321203
Appears in Collections:Scopus 1969-1990

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