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

Br Med J (Clin Res Ed). 1984 Oct 13;289(6450):947-8. doi: 10.1136/bmj.289.6450.947.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group*
  • DNA Restriction Enzymes
  • Deoxyribonuclease BamHI
  • Female
  • Genes
  • Genetic Linkage
  • Globins / genetics
  • Hong Kong
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Thalassemia / diagnosis
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA Restriction Enzymes
  • Deoxyribonuclease BamHI