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Molecular diagnosis of patients with β-thalassemia major in central Taiwan by amplified created restriction site analysis.
- Source :
-
Journal of Human Genetics . 1998, Vol. 43 Issue 4, p237. 5p. - Publication Year :
- 1998
-
Abstract
- 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 frameshift 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *THALASSEMIA
*CHROMOSOMES
*NUCLEOTIDES
*GENETIC mutation
Subjects
Details
- Language :
- English
- ISSN :
- 14345161
- Volume :
- 43
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 4688268
- Full Text :
- https://doi.org/10.1007/s100380050080