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PMID: 9585587 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.

American journal of human genetics ·Vol. 62 ·No. 6 ·1998-06-00 ·Pages 1468-74

Garner C, Mitchell J, Hatzis T, Reittie J, Farrall M, Thein SL

Abstract

Fetal hemoglobin (Hb F) and fetal cell (FC) levels in adults show considerable variation and are influenced by several genetic variants; the major determinants appear to be unlinked to the beta-globin gene cluster. Recently, a trans-acting locus controlling Hb F and FC production has been mapped to chromosome 6q23 in an Asian Indian kindred that includes individuals with heterocellular hereditary persistence of Hb F (HPFH) associated with beta thalassemia. We have extended the kindred by 57 members, bringing the total studied to 210, and have saturated the region with 26 additional markers. Linkage analysis showed tight linkage of the quantitative-trait locus (QTL) to the anonymous markers D6S976 (LOD score 11.3; recombination fraction .00) and D6S270 (LOD score 7.4; recombination fraction .00). Key recombination events now place this QTL within a 1-2-cM interval spanning approximately 1.5 Mb between D6S270 and D6S1626. Furthermore, haplotype analysis has led to a reevaluation of the genealogy and to the identification of additional relationships in the kindred.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 6 Female Fetal Hemoglobin/biosynthesis,genetics Genetic Linkage Genotype Haplotypes Humans Male Microsatellite Repeats Pedigree Quantitative Trait, Heritable
Chemicals
Fetal Hemoglobin
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Garner C
Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom.
Mitchell J
Hatzis T
Reittie J
Farrall M
Thein S L
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/301859
Published
1998-06-00
Pages
1468-74
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1377138
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1086/301859 PMC Full Text View journal details
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