To characterize mutations rapidly in 43 patients with
beta-thalassemia major in Taiwan, we utilized a method of natural and amplified created restriction site (ACRS) analysis for detection of
beta-globin gene mutation. After analysis, eight different point mutations were found among 86 known chromosomes. IVS-2 nt 654 (C-->T), accounting for 40 of the 86 mutations with mutant
beta-globin genes, is the most common mutation, followed by frameshift
codons 41/42 (-TCTT) in 28 mutations, -28 mutation (A-->G) in 7
mutations, nonsense codon 17 (A-->T) in 5 mutations, frameshift
codons 27/28 (insertion of C) in 2 mutations, IVS-1 nt 1 (G-->T) in 2 mutations, frameshift
codons 71/72 (insertion of A) in 1 mutation, and IVS-1 3' end TAG-->GAG in 1 mutation. The first four mutations account for 80 of all 86 mutations of
beta-thalassemia major in Taiwan. Furthermore, the
beta-globin gene mutation was identified successfully in one chorionic villi biopsy for prenatal diagnosis and in specimen of blood from one patient who had received
bone marrow transplantation (BMT). Complete diagnosis is possible in all of the Chinese families with
beta-thalassemia in Taiwan, and the first trimester prenatal diagnosis can be achieved simply by using only 13
oligonucleotide primers and 10
restriction endonucleases. This non-radioactive assay was shown to be a rapid, sensitive, precise and safe method in detecting the mutations of
beta-thalassemia in Taiwan.