Distribution of beta-thalassemia mutations in south China and their association with haplotypes

Am J Hum Genet. 1987 Oct;41(4):678-85.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • China
  • Chromosome Mapping
  • Globins / genetics*
  • Heterozygote
  • Mutation*
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Thalassemia / epidemiology
  • Thalassemia / genetics*

Substances

  • Globins