Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach

Jamie E. Craig, Jacques Rochette, Chris A. Fisher, David J. Weatherall, Sophie Marc, G. Mark Lathrop, Florence Demenais, Sweelay Thein

Research output: Contribution to journalArticle

134 Citations (Scopus)

Abstract

The changes in the type of haemoglobin (Hb) produced during embryonic, fetal and adult life, have served as a paradigm for understanding the developmental regulation of human genes. A genetically determined persistence of fetal Hb synthesis has an ameliorating effect on β thalassaemia and sickle cell anaemia, globally the commonest single gene disorders. The search for the putative gene(s) controlling the level of fetal Hb production has been extremely difficult because this trait may be influenced by several factors. We have studied a large kindred with hereditary persistence of fetal haemoglobin (HPFH). Using a genetic mapping strategy and statistical methods that account simultaneously for the effects of several genetic factors, we have demonstrated that in addition to the two factors (β thalassaemia and Xmn I-(G)γ site) on chromosome 11p, there is a third major genetic determinant for fetal Hb production localized on chromosome 6q.

Original languageEnglish
Pages (from-to)58-64
Number of pages7
JournalNature Genetics
Volume12
Issue number1
DOIs
Publication statusPublished - 1 Jan 1996
Externally publishedYes

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    Craig, J. E., Rochette, J., Fisher, C. A., Weatherall, D. J., Marc, S., Mark Lathrop, G., Demenais, F., & Thein, S. (1996). Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nature Genetics, 12(1), 58-64. https://doi.org/10.1038/ng0196-58