title: Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.
abstract: We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common alpha-thalassaemia deletions and one alpha-globin gene triplication. The new assay detects the alpha0 deletions - -SEA, - (alpha)20.5, - -MED, - -FIL and - -THAI in the first multiplex PCR, the second multiplex detects the -alpha3.7 deletion and alphaalphaalphaanti3.7 variant, the third multiplex detects the -alpha4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where alpha-thalassaemias are prevalent.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford. Oxford, UK.
authors.forename: Y T
authors.initials: YT
authors.lastname: Liu
authors.forename: J M
authors.initials: JM
authors.lastname: Old
authors.forename: K
authors.initials: K
authors.lastname: Miles
authors.forename: C A
authors.initials: CA
authors.lastname: Fisher
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
authors.forename: J B
authors.initials: JB
authors.lastname: Clegg
mesh_terms: D017353:Gene Deletion; D020440:Gene Duplication; D005914:Globins / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins