title: Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms.
abstract: 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.
mesh_terms: D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005260:Female; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes