title: Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.
abstract: The application of the amplification refractory mutation system (ARMS) to the detection of individual beta-thalassaemia mutations in heterozygous parents and "at risk" fetuses has been assessed in Indian and Cypriot immigrant populations in the UK. 100 first trimester prenatal diagnoses have been done, entailing the detection of 17 different mutations. The method, which allows the determination of the mutations in both parental and fetal DNA on the same day, should have wide application to the carrier detection and prenatal diagnosis of monogenic diseases with heterogeneous molecular defects.
authors.affiliation: National Haemoglobinopathy Reference Laboratory, John Radcliffe Hospital, Oxford, UK.
authors.forename: J M
authors.initials: JM
authors.lastname: Old
authors.forename: N Y
authors.initials: NY
authors.lastname: Varawalla
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D003535:Cyprus / Q000208:ethnology; D004247:DNA / Q000032:analysis*; D005069:Evaluation Studies as Topic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007194:India / Q000208:ethnology; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013789:Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D013997:Time Factors; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D004247:DNA