Genetic control of F cells in human adults

Ma, Zhoujun; Wood, W. G.; Clegg, J. B.; Weatherall, D. J.; O'Sullivan, M; Gunson, H

doi:10.1182/blood.v53.5.977.bloodjournal535977

Cited by 13 publications

(16 citation statements)

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“…is a direct test of linkage between the marker and QTL in b 3 and b 1 is a test of the shared, or common, environmental effect. Cardon has extended this model to test for allelic association, under the assumption of Fulker et al .…”

Section: Combined Linkage and Association Analysismentioning

confidence: 99%

A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis

Garner

Tatu²,

Gamé³

et al. 2000

GeneScreen

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Introduction Fetal haemoglobin (Hb F) and fetal cell (FC) levels in adults show considerable variation and the heritability of FC levels has been estimated to be 89% in the healthy European population; measured genotype analyses have shown the trait to be influenced by several genetic factors. In addition to the β‐globin gene complex on chromosome 11p, linkage analyses have reported loci affecting FC levels on chromosomes Xp22.2–p22.3 and 6q23. Methods We have genotyped a sample of approximately 300 unselected, same sex, dizygotic twin pairs from the St. Thomas’ UK Adult Twin Register for markers in these three regions and carried out a linkage analysis of FC levels. We also used a new method to simultaneously test for linkage and allelic association, and association caused by population stratification or admixture. Results There was no evidence for linkage of FC levels to chromosomes Xp22.2–p22.3 and 6q23. However, the β‐globin cluster was shown to be significantly linked and to be responsible for approximately one‐third of the additive genetic variance in FC levels in the sample. Conclusions The report represents the first application of this method to a sample of nonsimulated data and demonstrates the effectiveness of the approach. Combined linkage and association analysis of the β‐globin complex showed a strong association between the XmnI‐Gγ site and FC levels and that the observed association is not an artifact of recent population admixture or stratification.

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Section: Combined Linkage and Association Analysismentioning

confidence: 99%

A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis

Garner

Tatu²,

Gamé³

et al. 2000

GeneScreen

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“…8% of total Hb) in adult life (Stamatoyannopoulos & Nienhuis, 1994). The distribution of Hb F is restricted to a subset of erythrocytes known as 'F cells' (Boyer et al, 1975), and, generally, the F-cell percentage correlates closely with the level of Hb F (Sampietro et al, 1992;Zago et al, 1979). The number of F cells and the amount of Hb F per F cell may be increased in various genetic and acquired conditions characterized by elevated Hb F levels (Rochette et al, 1994).…”

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confidence: 99%

Myelodysplastic syndrome with karyotype abnormality is associated with elevated F‐cell production

et al. 1996

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A sensitive F-cell assay has been used to examine the production of fetal haemoglobin (Hb F) in a group of 77 adult patients with myelodysplastic syndrome (MDS), and a control group composed of 100 normal blood donors. Although the mean F-cell percentage in the MDS group (6.0%) is not statistically different from that in the normal blood donors (3.1%), a higher proportion of myelodysplastic patients have elevated F-cell values and the magnitude of the increases is greater than that observed in blood donors. In order to investigate the association further, the karyotypes of the MDS patients have been examined. 13/21 (61.9%) of the MDS patients with karyotypic abnormalities have F-cell values > 5%, compared to only 6/56 (10.9%) of the MDS patients with a normal karyotype and 11/100 (11%) of the blood donors. The observed difference in the distributions of F cells between the two subgroups of patients with MDS is highly significant (P < 0.0001).

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“…As previously suggested for man, the level of Hb F in blood is dependent upon the number of F-cells and the concentration of Hb F per F-cell, probably representing two independent mechanisms of control (Dover et al, 1978). The results of the present study suggest that in the normal baboon, older than 1.5 years, individual differences in the amount of Hb F among animals are primarily due to inherited differences in the production of F-cells, a situation which is also similar to that of man (Zago et al, 1979). In addition, we found in the baboon that this genetic difference in the number of F-cells is also present, when Hb F levels increase in response to erythropoietic stress.…”

Section: Discussionmentioning

confidence: 99%

Genetic Relationship between Fetal Hb Levels in Normal and Erythropoietically Stressed Baboons

DeSimone¹,

Heller²,

Biel³

et al. 1981

Br J Haematol

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Previous studies have shown that the magnitude of the fetal haemoglobin (Hb F) response to haemolytic anaemia and hypobaric hypoxia in the baboon is specific to an animal ('high and low Hb F responders'), suggesting that the Hb F response is under genetic control. In this study Hb F levels in 55 adult (over 8 years old) and 23 juvenile unstressed baboons varied between 0.02% and 0.6% ('resting Hb F levels'). Twenty-nine of these animals were subjected to haemolytic stress and the magnitude of their Hb F response was positively correlated with the resting Hb F levels. In addition, the resting levels of Hb F in parents were positively correlated with those of their offspring. In 11 animals, seven adults and four juveniles, subjected to haemopoietic stress the Hb F levels were increased proportionally to the number of F-cells. In juvenile animals the calculated concentration of Hb F per F-cell was markedly higher than in adult animals. These data demonstrate that the resting level of Hb F is predictive of the magnitude of the Hb F response to stress erythropoiesis. The number of F-cells and the concentration of Hb F per cell in erythropoietic stress appear to be modulated by different mechanisms.

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Genetic control of F cells in human adults

Cited by 13 publications

References 0 publications

A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis

A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis

Myelodysplastic syndrome with karyotype abnormality is associated with elevated F‐cell production

Genetic Relationship between Fetal Hb Levels in Normal and Erythropoietically Stressed Baboons

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