title: Distribution of beta-thalassemia mutations in south China and their association with haplotypes.
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.
mesh_terms: D002681:China; D002874:Chromosome Mapping; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins