βthalassemia in China: A systematic molecular characterization of βthalassemia mutations

S. Huang, P. G. Waber, C. E. Dowling, C. Wong, S. E. Antonarakis, R. L. Cai, M. Q. Wang, W. H.Y. Lo, H. H. Kazazian

Research output: Contribution to journalArticle

Abstract

In order to initiate a program of prenatal diagnosis for the prevention of βthalassemia in China, we have begun systematic studies of the βthal assemia mutations among the Chinese. DNA polymorphisms in the βglobin gene cluster were examined in 46 βthalassemia chromosomes. Six different haplotypes were observed. One βthalassemia gene associated with a new haplotype was cloned and sequenced. The mutation was a single base substitution (A→G) at position -29 within the highly conserved proximal promoter element (the "TATA" box). This mutation was not observed previously in the Chinese. The βthalassemia genes were further screened with oligonucleotide probes specific for all known mutations in the Chinese. Five mutations were identified and accounted for 35 βthalassemia alleles.

Original languageEnglish (US)
Pages (from-to)621-628
Number of pages8
JournalHemoglobin
Volume12
Issue number5-6
DOIs
StatePublished - Jan 1 1988

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ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

Huang, S., Waber, P. G., Dowling, C. E., Wong, C., Antonarakis, S. E., Cai, R. L., Wang, M. Q., Lo, W. H. Y., & Kazazian, H. H. (1988). βthalassemia in China: A systematic molecular characterization of βthalassemia mutations. Hemoglobin, 12(5-6), 621-628. https://doi.org/10.3109/03630268808991653