Supan FucharoenGoonnapa FucharoenWinionman SriroongruengVichai LaosombatArunee JetsrisuparbSutthipan PrasatkaewVoravarn S. TanphaichitrVinai SuvatteSoodsarkorn TuchindaYasuyuki FukumakiKyushu UniversityKhon Kaen UniversityPrince of Songkla UniversityMahidol University2018-06-142018-06-141989-12-01Human Genetics. Vol.84, No.1 (1989), 41-4614321203034067172-s2.0-0024829777https://repository.li.mahidol.ac.th/handle/20.500.14594/15705β-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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1007/BF00210668