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. 1976 Nov 18;295(21):1165-7.
doi: 10.1056/NEJM197611182952104.

Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization

Y W Kan, M S Golbus, A M Dozy

Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization

Y W Kan et al. N Engl J Med. .

Abstract

The technic of DNA-DNA hybridization was used for prenatal diagnosis of a pregnancy at risk for homozygous alpha-thalassemia. Fibroblasts were cultured from amniotic fluid, and the number of alpha-globin genes in the DNA was quantified by hybridization with radioactive DNA complementary to alpha-globin mRNA sequences. As compared to control studies of DNA from patients with alpha-thalassemia syndromes and from unaffected subjects, the results indicated that the fetus had alpha-thalassemia-1. The diagnosis was confirmed by umbilical-cord blood studies.

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