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Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.

Abstract
In order to assess the applicability of multiple restriction endonuclease analyses of amniocyte DNA to the prenatal diagnosis of beta-thalassemias in general, we studied 12 consecutive couples at risk. DNA of both members of the 12 couples and a previous offspring of each was analyzed for the presence of 4 polymorphic restriction endonuclease sites: the Hpa I site 3' to the beta-globin gene, the Hind III site in the G gamma gene, the Hind III site in the A gamma gene, and the Bam HI site 3' to the beta-gene. Linkage disequilibrium between these sites and beta A or beta thal genes was not found, presumably due to the heterogeneity of beta thal genes. However, the high frequency of polymorphism at these sites allowed differentiation of beta A-bearing chromosomes from beta thal or beta S-bearing chromosomes in both members of 6 couples. In these couples, complete prenatal diagnosis by linkage analysis of amniocyte DNA would be possible. In the remaining 6 couples, beta A and beta thal chromosomes could be discriminated in one member. In about 50% of the pregnancies of these couples, exclusion of beta-thalassemia is possible by this analysis. These data suggest that when linkage analysis of polymorphic restriction endonuclease sites is carried out, prenatal diagnosis of beta-thalassemia states can be accomplished by amniocentesis alone in 75% of pregnancies at risk.
AuthorsH H Kazazian Jr, J A Phillips 3rd, C D Boehm, T A Vik, M J Mahoney, A K Ritchey
JournalBlood (Blood) Vol. 56 Issue 5 Pg. 926-30 (Nov 1980) ISSN: 0006-4971 [Print] United States
PMID6252993 (Publication Type: Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • DNA
  • DNA Restriction Enzymes
Topics
  • Amniocentesis
  • DNA (genetics)
  • DNA Restriction Enzymes (genetics)
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis
  • Risk
  • Thalassemia (diagnosis, genetics)

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