Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

Polymorphisms of DNA restriction sites within the human fetal globin genes have been used to identify chromosomes that carry beta-thalassaemia genes in individuals heterozygous for this disease. This has allowed an antenatal diagnosis for beta-thalassaemia to be carried out by observation of the pat...

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Bibliographic Details
Published inNature (London) Vol. 285; no. 5761; p. 144
Main Authors Little, P F, Annison, G, Darling, S, Williamson, R, Camba, L, Modell, B
Format Journal Article
LanguageEnglish
Published England 15.05.1980
Subjects
DNA - genetics
DNA Restriction Enzymes - metabolism
Female
Genetic Linkage
Globins - genetics
Humans
Nucleic Acid Hybridization
Polymorphism, Genetic
Pregnancy
Prenatal Diagnosis - methods
Thalassemia - diagnosis
Thalassemia - genetics
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Summary:Polymorphisms of DNA restriction sites within the human fetal globin genes have been used to identify chromosomes that carry beta-thalassaemia genes in individuals heterozygous for this disease. This has allowed an antenatal diagnosis for beta-thalassaemia to be carried out by observation of the pattern of the inherited polymorphism of a linked DNA sequence not involved in the genetic pathogenesis of the disease. In the populations we have investigated there is no constant pattern of polymorphism that segregates with the beta-thalassaemia gene. The use of linked polymorphisms should, therefore, be applicable to antenatal diagnosis both of beta-thalassaemia and of any other single-gene defect for which there is a DNA probe specific for a sequence linked to the affected locus.
ISSN:0028-0836
DOI:10.1038/285144a0