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Rapid detection of α‐thalassaemia deletions and α‐globin gene triplication by multiplex polymerase chain reactions
Author(s) -
Y T Liu,
John Old,
Katie Miles,
Chloe Fisher,
D. J. Weatherall,
J. B. Clegg
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2000.01870.x
Subject(s) - multiplex , multiplex polymerase chain reaction , microbiology and biotechnology , biology , multiplex ligation dependent probe amplification , gene , polymerase chain reaction , genetics , exon
We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common α‐thalassaemia deletions and one α‐globin gene triplication. The new assay detects the α 0 deletions – – SEA , – (α) 20.5 , – – MED , – – FIL and – – THAI in the first multiplex PCR, the second multiplex detects the –α 3.7 deletion and ααα anti3.7 variant, the third multiplex detects the –α 4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where α‐thalassaemias are prevalent.