title: Feasibility of prenatal diagnosis of beta thalassaemia by DNA polymorphisms in an Italian population.
abstract: A feasibility study of prenatal diagnosis of beta thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous beta thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava II psi beta polymorphism increased this figure to 23/25 (92%) of the families.
mesh_terms: D002648:Child; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005240:Feasibility Studies; D005260:Female; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes