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The molecular basis of HPFH in a British family identified by heteroduplex formation
Author(s) -
Craig J. E.,
Sheerin S. M.,
Barnetson R.,
Thein S. L.
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.tb03032.x
Subject(s) - heteroduplex , genetics , basis (linear algebra) , computational biology , biology , evolutionary biology , gene , mathematics , geometry
Summary. Single‐base substitutions in the immediate 5′‐flanking region of the fetal G γ and A γ globin genes have been associated with non‐deletional forms of hereditary persistence of fetal haemoglobin (HPFH). Previously, the sole promoter mutation associated with HPFH in British individuals has been the T to C substitution at position – 198 relative to the A γ globin gene CAP site. We have investigated a British family with G γ HPFH and found a T to C substitution at position – 175 of the G γ globin gene. The mutation was first detected by examining the amplified 5’regions of both the G γ and A γ globin genes for heteroduplex formation after electrophoresis in a Hydrolink gel. The potential of such a system for the study of sequence variations in the γ gene promoter regions associated with elevated HbF expression has been evaluated. Previously reported cases of an identical mutation in an American‐Black and a Sardinian family display haematological phenotypes remarkably similar to that of the British family described here.