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. 1975 Sep;27(5):586–594.

Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.

W J Kimberling, T Fulbeck, L Dixon, H A Lubs
PMCID: PMC1762822  PMID: 1163534

Abstract

Significant linkage was found between spherocytosis and a translocation involving the short arms of chromosomes 8 and 12. The gene for spherocytosis, therefore, is likely either very close to the centromere of chromosome 8 or on 12p. The unusually high frequency of spontaneous abortion in this family was probably due to this translocation and was unrelated to the spherocytosis.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chapman R. G., McDonald L. L. Red cell life span after splenectomy in hereditary spherocytosis. J Clin Invest. 1968 Oct;47(10):2263–2267. doi: 10.1172/JCI105911. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Chapman R. G. Red cell aldolase deficiency in hereditary spherocytosis. Br J Haematol. 1969 Jan-Feb;16(1):145–156. doi: 10.1111/j.1365-2141.1969.tb00386.x. [DOI] [PubMed] [Google Scholar]
  3. Lewis W. H., Harris H. Human red cell peptidases. Nature. 1967 Jul 22;215(5099):351–355. doi: 10.1038/215351a0. [DOI] [PubMed] [Google Scholar]
  4. Long W. K. Glutathione reductase in red blood cells: variant associated with gout. Science. 1967 Feb 10;155(3763):712–713. doi: 10.1126/science.155.3763.712. [DOI] [PubMed] [Google Scholar]
  5. Lubs H. A., McKenzie W. H., Patil S. R., Merrick S. New staining methods for chromosomes. Methods Cell Biol. 1973;6:345–380. doi: 10.1016/s0091-679x(08)60057-6. [DOI] [PubMed] [Google Scholar]
  6. MORTON N. E., MACKINNEY A. A., KOSOWER N., SCHILLING R. F., GRAY M. P. Genetics of spherocytosis. Am J Hum Genet. 1962 Jun;14:170–184. [PMC free article] [PubMed] [Google Scholar]
  7. MORTON N. E. Sequential tests for the detection of linkage. Am J Hum Genet. 1955 Sep;7(3):277–318. [PMC free article] [PubMed] [Google Scholar]
  8. MORTON N. E. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet. 1956 Jun;8(2):80–96. [PMC free article] [PubMed] [Google Scholar]
  9. PARKER W. C., CLEVE H., BEARN A. G. DETERMINATION OF PHENOTYPES IN THE HUMAN GROUP-SPECIFIC COMPONENT (GC) SYSTEM BY STARCH GEL ELECTROPHORESIS. Am J Hum Genet. 1963 Dec;15:353–367. [PMC free article] [PubMed] [Google Scholar]
  10. YOUNG L. E. Observations on inheritance and heterogeneity of chronic spherocytosis. Trans Assoc Am Physicians. 1955;68:141–148. [PubMed] [Google Scholar]

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