Molecular basis of beta-thalassemia in Thailand: analysis of beta-thalassemia mutations using the polymerase chain reaction.
beta-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 allele-specific 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 4 bp 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.
Fucharoen
S
S
Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.
Fucharoen
G
G
Sriroongrueng
W
W
Laosombat
V
V
Jetsrisuparb
A
A
Prasatkaew
S
S
Tanphaichitr
V S
VS
Suvatte
V
V
Tuchinda
S
S
Fukumaki
Y
Y
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003710:Demography; D005091:Exons; D005784:Gene Amplification; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D013785:Thailand; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D015345:Oligonucleotide Probes