title: A PCR-based strategy to detect the common severe determinants of alpha thalassaemia.
abstract: A rapid and inexpensive polymerase chain reaction (PCR) based strategy is described which detects the three common, severe alpha thalassaemia determinants observed in southeast Asia (--SEA) and the Mediterranean (--MED and -(alpha)20.5). Oligonucleotide primers have been chosen which allow specific identification of both normal (alpha alpha) and abnormal (--) chromosomes using identical conditions in either the same or parallel PCR reactions. This strategy should be useful in the development of screening programmes to identify carriers of alpha thalassaemia (--/alpha alpha) and prenatal diagnosis of the Hb Bart's hydrops fetalis syndrome (--/--) for those populations in which this represents a major cause of perinatal death.
authors.affiliation: Department of Anatomy, Monash University, Clayton, Victoria, Australia.
authors.forename: D K
authors.initials: DK
authors.lastname: Bowden
authors.forename: M A
authors.initials: MA
authors.lastname: Vickers
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics; D008403:Mass Screening; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000032:analysis; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000235:genetics* / Q000517:prevention & control
chemical_list: D009841:Oligonucleotides; D004247:DNA