DISTRIBUTION OF BETA-THALASSEMIA MUTATIONS IN SOUTH CHINA AND THEIR ASSOCIATION WITH HAPLOTYPES
- 1 October 1987
- journal article
- research article
- Vol. 41 (4) , 678-685
Abstract
DNA from 93 Chinese .beta.-thalassemia chromosomes were hybridized to eight different mutant oligomers to determine their specific mutation. Four mutations accounted for 87% of the chromosomes; in descending frequencies these mutations were codon 41/42, IVS-2 nt654, codon 17, and -28. Since codon 41/42 mutation can be associated with multiple .beta.-thalassemia haplotypes, codon 41/42 is probably a hot spot for the 4-bp deletion. The distributions of these mutations were mapped to various regions in south China. These data are useful for the planning of prenatal diagnosis programs in other Chinese communities worldwide.This publication has 17 references indexed in Scilit:
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