Molecular heterogeneity of beta-thalassemia in Thailand.
beta-Globin genes in 294 chromosomes of beta-thalassemia homozygotes and patients of beta-thalassemia/HbE in the northeast, the middle and the south of Thailand were analyzed by the PCR related techniques: dot blot hybridization, direct restriction assay, direct cloning and direct sequencing of the amplified DNA fragments. Twelve different mutations were detected at various frequencies. They are an A-G at-28, codon 19 (AAC-AGC), a G-T at IVS-1 nt1,a G-C at IVS-1 nt5, a C-T at IVS-2 nt654, a G addition in codons 8/9, a C deletion in codon 41, a 4 bp deletion in codons 41/42, an A addition in codons 71/72, an AAG-TAG in codon 17, a CAG-TAG in codon 26, a TAC-TAA in codon 35 and a 8 bp deletion in codons 123-125. We also developed allele specific-polymerase chain reaction to facilitate non-radioactive detection of the mutation. Origins and spread of mutations are speculated based on the results of determination of haplotypes and frameworks that are linked to the thalassemia alleles.
Fukumaki
Y
Y
Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.
Fucharoen
S
S
Fucharoen
G
G
Okamoto
N
N
Ichinose
M
M
Jetsrisuparb
A
A
Sriroongrueng
W
W
Nopparatana
C
C
Laosombat
V
V
Panich
V
V
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA; D004274:DNA, Recombinant; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011159:Population Surveillance; D014176:Protein Biosynthesis / Q000235:genetics; D013785:Thailand / Q000453:epidemiology; D014158:Transcription, Genetic / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D004274:DNA, Recombinant; D005914:Globins; D004247:DNA