Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.
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.
Liu
Y T
YT
MRC Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford. Oxford, UK.
Old
J M
JM
Miles
K
K
Fisher
C A
CA
Weatherall
D J
DJ
Clegg
J B
JB
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*
D005914:Globins