Application of DNA polymorphisms for prenatal diagnosis of beta thalassemia in Chinese

Am J Hematol. 1987 Aug;25(4):409-15. doi: 10.1002/ajh.2830250407.


Forty-seven Chinese suffering from beta thalassemia major and their parents were studied to establish linkage of the beta thal and beta A genes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3' to the beta globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude beta thalassemia major. Using four restriction sites (Hinc II psi beta, Ava II beta, Hind III beta, and BamH I beta), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive beta thalassemia prenatal diagnosis is also reported.

Publication types

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

MeSH terms

  • China
  • DNA / genetics*
  • Female
  • Fetal Blood / analysis
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Thalassemia / diagnosis*
  • Thalassemia / genetics


  • DNA