Premium
Rapid analysis of ‐α 3.7 thalassaemia and ααα anti 3.7 triplication by enzymatic amplification analysis
Author(s) -
Dodé Catherine,
Krishnamoorthy Rajagopal,
Lamb Janette,
Rochette Jacques
Publication year - 1993
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 - 10.1111/j.1365-2141.1993.tb04639.x
Subject(s) - alpha (finance) , genetics , restriction enzyme , recombinant dna , microbiology and biotechnology , biology , medicine , gene , construct validity , nursing , patient satisfaction
Summary In this report we describe a PCR‐based method for the diagnosis of the most common form of α thalassaemia, the –α 3.7 deletion which occurs throughout all tropical and subtropical regions of the world. The same procedure also identifies the reciprocal recombinant chromosome (ααα anti 3.7 ). Restriction mapping of the PCR products has enabled us to distinguish between the type I (–α 3.7I ), type II (–α 3.7II ) and type III (–α 3.7III ) deletions. This strategy will be very useful in screening programmes of α thalassaemia occurring on its own or in association with β thalassaemia and sickle cell disease.