Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

P. Gasparini, E. Miraglia Del Giudice, J. Delaunay, A. Totaro, M. Granatiero, S. Melchionda, L. Zelante, A. Iolascon

Research output: Contribution to journalArticle

Abstract

Congenital dyserythropoietic anemias (CDA) are genetic disorders characterized by anemia and ineffective erythropoiesis. Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as 'HEMPAS' (hereditary erythroblast multinuclearity with positive acidified serum). We have recruited a panel of well-characterized CDA II families and have used them to search for the CDA II gene by linkage analysis. After the exclusion of three candidate genes, we obtained conclusive evidence for linkage of CDA II to microsatellite markers on the long arm of chromosome 20 (20q11.2). A maximum two-point LOD score of 5.4 at a recombination fraction of .00 was obtained with marker D20S863. Strong evidence of allelic association with the disease was detected with the same marker. Some recombinational events established a maximum candidate interval of ~5 cM.

Original languageEnglish
Pages (from-to)1112-1116
Number of pages5
JournalAmerican Journal of Human Genetics
Volume61
Issue number5
DOIs
Publication statusPublished - Nov 1997

ASJC Scopus subject areas

  • Genetics

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    Gasparini, P., Miraglia Del Giudice, E., Delaunay, J., Totaro, A., Granatiero, M., Melchionda, S., Zelante, L., & Iolascon, A. (1997). Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. American Journal of Human Genetics, 61(5), 1112-1116. https://doi.org/10.1086/301609