title: Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis.
abstract: beta-Thalassemia, a hematologic disorder characterized by the deficiency or the absence of beta-globin production, is the most widespread inherited disorder in the world; it is also common in Taiwan. We studied 38 patients in central Taiwan with beta-thalassemia major, using amplified created restriction site analysis for detection. On analysis, six different point mutations were found among 76 chromosomes, of which 32 chromosomes (42.1%) had a C to T substitution at nucleotide 654, 30 (40%) had frameshift codons 41/42 with four nucleotides (TCTT) deletion, 7 (9.2%) had an A to T substitution at codon 17, 3 (3.9%) had frameshift codons 71/72 (insertion of A), 2 (2.6%) had an A to G substitution at position -28, and 2 (2.6%) had frame-shift codons 27/28 (insertion of C). The first two mutations accounted for 62 of the 76 beta-thalassemia mutations in this study. As to mutations in each individual with beta-thalassemia major, the incidence of compound heterozygotes of two different mutations was higher than that of homozygotes of a single mutation (60% vs 40%). Compound heterozygotes of C to T substitution at nucleotide 654 of IVS-2 and frameshift codons 41/42 with four-nucleotide deletion was the most common pattern of beta-thalassemia mutations in each individual (23.7%). Our results were unique compared with those from similar studies performed in southern China. Frequencies of beta-thalassemia mutations found in the current study were assessed and compared with frequencies found in previous studies conducted in northern and southern Taiwan.
authors.affiliation: Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan. penect@hpd.cmch.org.tw
authors.forename: C T
authors.initials: CT
authors.lastname: Peng
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005914:Globins / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D015183:Restriction Mapping; D013624:Taiwan; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA