Quantitative trait loci for baseline erythroid traits

Mamm Genome. 2006 Apr;17(4):298-309. doi: 10.1007/s00335-005-0147-3. Epub 2006 Apr 4.


A substantial genetic contribution underlies variation in baseline peripheral blood counts. We performed quantitative trait locus/loci (QTL) analyses to identify chromosome (Chr) regions harboring genes influencing the baseline erythroid parameters in F2 intercrosses between NZW/LacJ, SM/J, and C57BLKS/J inbred mice. We identified multiple significant QTL for red blood cell (RBC) count, hemoglobin (Hgb) and hematocrit (Hct) levels, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean cell hemoglobin concentration (CHCM). We identified four RBC count QTL: Rbcq1 (Chr 1, peak LOD score at 62 cM,), Rbcq2 (Chr 4, 60 cM), Rbcq3 (Chr 11, 34 cM), and Rbcq4 (Chr 10, 60 cM). Three MCV QTL were identified: Mcvq1 (Chr 7, 30 cM), Mvcq2 (Chr 11, 6 cM), and Mcvq3 (Chr 10, 60 cM). Single significant loci for Hgb (Hgbq1, Chr 16, 32 cM), Hct (Hctq1, Chr 3, 42 cM), and MCH (Mchq1, Chr 10, 60 cM) were identified. The data support the existence of a common RBC/MCH/MCV locus on Chr 10. Two QTL for CHCM (Chcmq1, Chr 2, 48 cM; Chcmq2, Chr 9, 44 cM) and an interaction between Chcmq2 with a locus on Chr 19 were identified. These analyses emphasize the genetic complexity underlying the regulation of erythroid peripheral blood traits in normal populations and suggest that genes not previously recognized as significantly impacting normal erythropoiesis exist.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Chromosomes / genetics*
  • Crosses, Genetic
  • Erythrocyte Count
  • Erythropoiesis / genetics*
  • Female
  • Hematocrit
  • Hemoglobins / analysis
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred NZB
  • Quantitative Trait Loci / genetics*
  • Quantitative Trait, Heritable


  • Hemoglobins