Further Evidence for Location of the Spherocytosis Gene on Chromosome 8

Brief Reports1 August 1983Further Evidence for Location of the Spherocytosis Gene on Chromosome 8ERIC B. BASS, A.B., SAMUEL W. SMITH Jr., M.D., ROGER E. STEVENSON, M.D., WENDELL F. ROSSE, M.D.ERIC B. BASS, A.B.Search for more papers by this author, SAMUEL W. SMITH Jr., M.D.Search for more papers by this author, ROGER E. STEVENSON, M.D.Search for more papers by this author, WENDELL F. ROSSE, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-99-2-192 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptHereditary spherocytosis (HS) is a form of hemolytic anemia transmitted as an autosomal dominant trait (1). To date, the HS gene has not been mapped to a specific chromosome. Kimberling and associates (2, 3) reported a family containing 14 members with both HS and a balanced translocation between the short arms of chromosomes 8 and 12 (t(8;12) (p11; p13)). This linkage between hereditary spherocytosis and the translocation would place the HS locus on chromosome 8 or chromosome 12. We report a mother and son with hereditary spherocytosis and a balanced translocation between chromosomes 3 and 8 and suggest that...References1. MORTONMACKINNEYKOSOWERSCHILLINGGRAY NANRM. Genetics of spherocytosis. Am J Hum Genet. 1962;14:170-84. MedlineGoogle Scholar2. KIMBERLINGFULBECKDIXONLUBS WTLH. Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. Am J Hum Genet. 1975;27:586-94. MedlineGoogle Scholar3. KIMBERLINGTAYLORCHAPMANLUBS WRRH. Linkage and gene localization of hereditary spherocytosis (HS). Blood. 1978;52:859-67. CrossrefMedlineGoogle Scholar4. BORGAONKARLILLARD DD. Repository of Chromosomal Variants and Anomalies in Man: An International Registry of Abnormal Karyotypes. Seventh Listing. Denton, Texas: North Texas State University; 1980:85-6. Google Scholar5. LINDENBAUMBOBROW RM. Reciprocal translocations in man: 3:1 meiotic disjunction resulting in 47- or 45-chromosome offspring. J Med Genet. 1975;12:29-43. CrossrefMedlineGoogle Scholar6. GEDDE-DAHLFRANTSOLAISENERIKSSONVAN LOGHEMLAMM TRBAEL. The Gm-Pi linkage heterogeneity in view of Pi M subtypes. Ann Hum Genet. 1981;45:143-53. CrossrefMedlineGoogle Scholar7. HOBARTRABBITTSGOODFELLOW MTP. >Immunoglobulin heavy chain genes in humans are located on chromosome 14. Ann Hum Genet. 1981;45:331-5. CrossrefMedlineGoogle Scholar8. SMITHHIRSCHHORN MK. Location of the genes for human heavy chain immunoglobulin to chromosome 6. Proc Natl Acad Sci (USA). 1978;75:3367-71. CrossrefMedlineGoogle Scholar9. GUTENSOHNRODEWALDHAASSCHULZCLEVE WABPH. Refined mapping of the gene for glutathione reductase on human chromosome 8. Hum Genet. 1981;43:221-4. CrossrefGoogle Scholar10. NAKASHIMAYAMAUCHIMIWAFUJIMUREMIZUTANIKURAMOTO KKSKAA. Glutathione reductase deficiency in a kindred with hereditary spherocytosis. Am J Hematol. 1978;4:145-50. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Duke University Medical Center Durham, North Carolina Greenville General Hospital Greenville Greenwood Genetic Center Greenwood, South Carolina PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disordersMendelian Inheritance in Man and Its Online Version, OMIMHereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases StudiedAnkyrin Bugey: A de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosisDistal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardationRed cell cytoskeletal abnormalitiesHereditary spherocytic anemia with deletion of the short arm of chromosome 8Genetic disorders of the red cell membraneFrom anemia to cerebellar dysfunctionA highly conserved region of human erythrocyte ankyrin contains the capacity to bind spectrin.Mendelian cytogenetics. 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A review of the ankyrin gene familyHomozygosity for dominant form of hereditary spherocytosisDes homologies entre protéines membranaires ont pour conséquence des parentés attendues ou inattendues entre maladies neuromusculaires et érythrocytairesDeletion of the proximal short arm of chromosome 8Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion of the short arm of chromosome 8Linkage of Dominant Hereditary Spherocytosis to the Gene for the Erythrocyte Membrane-Skeleton Protein AnkyrinHereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8The red cell skeleton and its genetic disordersThe spectrin-actin junction of erythrocyte membrane skeletonsHuman chromosome 8.Translocation t(8;16) in acute monocytic leukemiaLocalization of the spherocytosis gene to chromosome segment 8p11.22?8p21.1Hereditary elliptocytosis, spherocytosis and related disorders: Consequences of a deficiency or a mutation of membrane skeletal proteinsHereditary Spherocytosis and Related Disorders 1 August 1983Volume 99, Issue 2Page: 192-193KeywordsAutosomal dominant traitsChromosomal translocationsChromosomesHemolytic anemia Issue Published: 1 August 1983 PDF DownloadLoading ...