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, Haig 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 - 1988

Fingerprint

Thalassemia
China
Genes
Mutation
TATA Box
Globins
Oligonucleotide Probes
Haplotypes
Chromosomes
Polymorphism
Substitution reactions
Multigene Family
Prenatal Diagnosis
DNA
Alleles

ASJC Scopus subject areas

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

Cite this

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

βthalassemia in China : A systematic molecular characterization of βthalassemia mutations. / Huang, S.; Waber, P. G.; Dowling, C. E.; Wong, C.; Antonarakis, S. E.; Cai, R. L.; Wang, M. Q.; Lo, W. H Y; Kazazian, Haig.

In: Hemoglobin, Vol. 12, No. 5-6, 1988, p. 621-628.

Research output: Contribution to journalArticle

Huang, S, Waber, PG, Dowling, CE, Wong, C, Antonarakis, SE, Cai, RL, Wang, MQ, Lo, WHY & Kazazian, H 1988, 'βthalassemia in China: A systematic molecular characterization of βthalassemia mutations', Hemoglobin, vol. 12, no. 5-6, pp. 621-628. https://doi.org/10.3109/03630268808991653
Huang S, Waber PG, Dowling CE, Wong C, Antonarakis SE, Cai RL et al. βthalassemia in China: A systematic molecular characterization of βthalassemia mutations. Hemoglobin. 1988;12(5-6):621-628. https://doi.org/10.3109/03630268808991653
Huang, S. ; Waber, P. G. ; Dowling, C. E. ; Wong, C. ; Antonarakis, S. E. ; Cai, R. L. ; Wang, M. Q. ; Lo, W. H Y ; Kazazian, Haig. / βthalassemia in China : A systematic molecular characterization of βthalassemia mutations. In: Hemoglobin. 1988 ; Vol. 12, No. 5-6. pp. 621-628.
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