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

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Abstract
Polymorphisms of DNA restriction sites within the human fetal globin genes have been used to identify chromosomes that carry β-thalassaemia genes in individuals heterozygous for this disease. This has allowed an antenatal diagnosis for β-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 β-thalassaemia gene. The use of linked polymorphisms should, therefore, be applicable to antenatal diagnosis both of β-thalassaemia and of any other single-gene defect for which there is a DNA probe specific for a sequence linked to the affected locus.