Genomewide scans of red cell indices suggest linkage on chromosome 6q23

Iliadou, A., Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2007) Genomewide scans of red cell indices suggest linkage on chromosome 6q23. Journal of Medical Genetics, 44 1: 24-30. doi:10.1136/jmg.2006.043521


Author Iliadou, A.
Evans, D. M.
Zhu, G.
Duffy, D. L.
Frazer, I. H.
Montgomery, G. W.
Martin, N. G.
Title Genomewide scans of red cell indices suggest linkage on chromosome 6q23
Journal name Journal of Medical Genetics   Check publisher's open access policy
ISSN 0022-2593
Publication date 2007-01-01
Year available 2006
Sub-type Article (original research)
DOI 10.1136/jmg.2006.043521
Volume 44
Issue 1
Start page 24
End page 30
Total pages 7
Place of publication United Kingdom
Publisher BMJ Publishing group
Collection year 2008
Language eng
Subject C1
270207 Quantitative Genetics
780105 Biological sciences
Abstract BACKGROUND: The red cell indices quantify the size, number and oxygen-carrying ability of erythrocytes. Although the genetic basis of many monogenic forms of anaemia is well understood, comparatively little is known about the genes responsible for variation in the red cell indices among healthy participants. OBJECTIVE: To identify quantitative trait loci (QTLs) responsible for normal variation in the red cell indices of 391 pairs of dizygotic twins who were measured longitudinally at 12, 14 and 16 years of age. RESULTS: Evidence suggesting linkage of red cell indices to haemoglobin concentration (LOD = 3.03) and haematocrit (LOD = 2.95) on chromosome 6q23, a region previously identified as possibly harbouring a QTL for haematocrit, was found. Evidence for linkage to several other regions of the genome, including chromosome 4q32 for red cell count and 7q for mean cell volume, was also found. In contrast, there was little evidence of linkage to the chromosomal regions containing the genes for erythropoietin (7q21) and its receptor (19p13.2), nor to the regions containing the genes for the haemoglobin alpha (16p13.3) and beta chains (11p15.5). CONCLUSION: Findings provide additional evidence for a QTL affecting haemoglobin and haematocrit on chromosome 6q23. In contrast, polymorphisms in the genes coding for erythropoietin, its receptor and the haemoglobin alpha and beta chains do not appear to contribute substantially to variation in the red cell indices between healthy persons.
Keyword Adolescent
Child
Chromosome Mapping
Chromosomes, Human, Pair 6/*genetics
Erythrocyte Indices/*genetics
Female
Genome, Human
Hematocrit
Humans
Lod Score
Male
Quantitative Trait Loci
Q-Index Code C1
Q-Index Status Confirmed Code

 
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Created: Wed, 20 Feb 2008, 00:39:57 EST