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

doi:10.1038/ng0196-58

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 journal › Article › peer-review

147 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 language	English
Pages (from-to)	58-64
Number of pages	7
Journal	Nature Genetics
Volume	12
Issue number	1
DOIs	https://doi.org/10.1038/ng0196-58
Publication status	Published - 1 Jan 1996
Externally published	Yes

Access to Document

10.1038/ng0196-58Licence: In Copyright

Cite this

@article{87a0b113e9854df686786c36de3f5b6b,

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

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.",

author = "Craig, {Jamie E.} and Jacques Rochette and Fisher, {Chris A.} and Weatherall, {David J.} and Sophie Marc and {Mark Lathrop}, G. and Florence Demenais and Sweelay Thein",

year = "1996",

month = jan,

day = "1",

doi = "10.1038/ng0196-58",

language = "English",

volume = "12",

pages = "58--64",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach

AU - Craig, Jamie E.

AU - Rochette, Jacques

AU - Fisher, Chris A.

AU - Weatherall, David J.

AU - Marc, Sophie

AU - Mark Lathrop, G.

AU - Demenais, Florence

AU - Thein, Sweelay

PY - 1996/1/1

Y1 - 1996/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0030065604&partnerID=8YFLogxK

U2 - 10.1038/ng0196-58

DO - 10.1038/ng0196-58

M3 - Article

C2 - 8528252

AN - SCOPUS:0030065604

SN - 1061-4036

VL - 12

SP - 58

EP - 64

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

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

Abstract

Access to Document

Other files and links

Fingerprint

Cite this