The Australian type of nondeletional G gamma-HPFH has a C-->G substitution at nucleotide -114 of the G gamma gene.
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 gamma- or A gamma-globin genes. Affected positions include -202, -175, -161, -158 and -114 of the G gamma gene, and -202, -198, -196, -195, -175, and -117 of the A gamma 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 gamma gene which is associated with the phenotype of G gamma-HPFH.
Motum
P I
PI
Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, N.S.W., Australia.
Deng
Z M
ZM
Huong
L
L
Trent
R J
RJ
D001483:Base Sequence; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic
D005914:Globins; D005319:Fetal Hemoglobin