A new DNA polymorphism for prenatal diagnosis of beta-thalassaemia in Mediterranean populations.
The prevalence of a new polymorphism for the restriction enzyme Ava II in the psi beta-gene of the beta-globin gene cluster was determined in Mediterranean families with at least one beta-thalassaemia homozygote. The polymorphic site was absent in 54/115 beta-thalassaemic chromosomes but only in 4/120 normal chromosomes. The difference in frequencies of this polymorphism between normal and thalassaemic chromosomes greatly increases the feasibility of prenatal diagnosis of beta-thalassaemia by DNA analysis in this population.
D001211:Asia, Western; D002875:Chromosomes / Q000032:analysis; D003535:Cyprus; D004247:DNA / Q000032:analysis / Q000235:genetics*; D005260:Female; D006115:Greece; D006720:Homozygote; D006801:Humans; D007558:Italy; D008521:Mediterranean Islands; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D004247:DNA