Research Article

BamH I polymorphism in the Chinese: its potential usefulness in prenatal diagnosis of beta thalassaemia.

Br Med J (Clin Res Ed) 1984; 289 doi: https://doi.org/10.1136/bmj.289.6450.947 (Published 13 October 1984) Cite this as: Br Med J (Clin Res Ed) 1984;289:947
  1. V Chan,
  2. N K Leung,
  3. T K Chan,
  4. A Ghosh,
  5. Y W Kan,
  6. D Todd

    Abstract

    The prevalence of the BamH I site 3' to the beta globin gene in Chinese people was determined in 123 normal subjects, 40 patients with heterozygous beta thalassaemia, and 25 patients with homozygous beta thalassaemia. The site was present in 71.1% and absent in 28.9% of the chromosomes carrying normal beta genes. All 25 patients with beta thalassaemia major had the site. This BamH I polymorphism may be used for prenatal diagnosis in about 29% of the pregnancies at risk.