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Polymerase chain reaction amplification applied to the direct detection of a 4 bp deletion in the promoter region of the A γ gene
Author(s) -
Manca Laura,
Cocco Elena,
Masala Bruno,
Gilman John G.
Publication year - 1990
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830350215
Subject(s) - polymerase chain reaction , microbiology and biotechnology , haplotype , gene , biology , thalassemia , promoter , gene duplication , genetics , dna , polymerase chain reaction optimization , multiplex polymerase chain reaction , allele , gene expression
We report here the identification of a 4 bp deletion in the A γ T globin gene promoter by means of Fnu4Hl digestion of DNA amplified by polymerase chain reaction (PCR). This deletion has been previously associated with haplotype II β‐thalassemia in Sardinia. This simple, non‐radioactive procedure should facilitate the screening of various populations of normal and β‐thalassemic subjects for this specific genetic alteration.