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.
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Authors | H H Kazazian Jr, J A Phillips 3rd, C D Boehm, T A Vik, M J Mahoney, A K Ritchey |
Journal | Blood
(Blood)
Vol. 56
Issue 5
Pg. 926-30
(Nov 1980)
ISSN: 0006-4971 [Print] United States |
PMID | 6252993
(Publication Type: Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- DNA
- DNA Restriction Enzymes
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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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