Rapid detection of α‐thalassaemia deletions and α‐globin gene triplication by multiplex polymerase chain reactions

• Published in: British journal of haematology Vol. 108; no. 2; pp. 295 - 299
• Main Authors: LIU, Y. T, OLD, J. M, MILES, K, FISHER, C. A, WEATHERALL, D. J, CLEGG, J. B
• Format: Journal Article
• Language: English
• Published: Oxford, U.K. and Cambridge, USA Blackwell Science Ltd 01-02-2000; Blackwell
• Subjects: alpha-Thalassemia - diagnosis; alpha-Thalassemia - genetics; Biological and medical sciences; GC‐rich PCR; Gene Deletion; Gene Duplication; genetic screening; Globins - genetics; Hematology; Humans; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; multiplex PCR; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Polymerase Chain Reaction - methods; Sensitivity and Specificity; α‐globin gene triplication; α‐thalassaemia; Human; Multiplexing; Hemoglobinopathy; Hemopathy; Genetic disease; Globin; Polymerase chain reaction; Hemolytic anemia; Gene; α-Thalassemia; Deletion; Genetics; Alpha-Peptide chain; Diagnosis; Molecular biology
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2000.01870.x

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 α0 deletions – –SEA, – (α)20.5, – –MED, – –FIL and – –THAI in the first multiplex PCR, the second multiplex detects the –α3.7 deletion and αααanti3.7 variant, the third multiplex detects the –α4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where α‐thalassaemias are prevalent.