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The Australian type of nondeletional G γ‐HPFH has a C→G substitution at nucleotide — 114 of the G γ gene
Author(s) -
Motum P. I.,
Deng Z.M.,
Huong L.,
Trent R. J.
Publication year - 1994
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.1365-2141.1994.tb03284.x
Subject(s) - transversion , gene , genetics , fetal hemoglobin , nucleotide , biology , mutation , microbiology and biotechnology , phenotype , globin , compound heterozygosity , fetus , pregnancy
Nondeletional hereditary persistence of fetal haemoglobin (HPFH) results in the continued production of 2–25% haemoglobin F (Hb F) in the adult who is heterozygous for this mutation. This increase is associated with single‐base mutations in the promoter region of either the G γ‐ or A γ‐ globin genes. Affected positions include – 202, – 175, – 161, – 158 and – 114 of the G γ gene, and – 202, – 198, – 196, – 195, – 175, and – 117 of the A γ gene. There is now evidence that these mutations produce their effect by changing the binding of certain regulatory proteins. We describe a novel C→G transversion at position – 114 of the G γ gene which is associated with the phenotype of G γ‐ HPFH.