ISSN:
1435-232X
Keywords:
Key wordsβ-Thalassemia
;
Mutation screening
;
Amplified created restriction site (ACRS)
;
Taiwanese.
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract β-Thalassemia, a hematologic disorder characterized by the deficiency or the absence of β-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 β-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 frameshift codons 27/28 (insertion of C). The first two mutations accounted for 62 of the 76 β-thalassemia mutations in this study. As to mutations in each individual with β-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 β-thalassemia mutations in each individual (23.7%). Our results were unique compared with those from similar studies performed in southern China. Frequencies of β-thalassemia mutations found in the current study were assessed and compared with frequencies found in previous studies conducted in northern and southern Taiwan.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050080
