Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search

• Published in: American journal of human genetics Vol. 61; no. 5; pp. 1112 - 1116
• Main Authors: Gasparini, P., Miraglia del Giudice, E., Delaunay, J., Totaro, A., Granatiero, M., Melchionda, S., Zelante, L., Iolascon, A.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.11.1997; University of Chicago Press
• Subjects: Anemia, Dyserythropoietic, Congenital - classification; Anemia, Dyserythropoietic, Congenital - genetics; Anemias. Hemoglobinopathies; Biological and medical sciences; Chromosome 20; Chromosome Mapping; Chromosomes, Human, Pair 20 - genetics; Congenital dyserythropoietic anemia type II; Diseases of red blood cells; Female; Genetic Linkage - genetics; Hematologic and hematopoietic diseases; Humans; Linkage analysis; Lod Score; Male; Mapping, genetic; Medical sciences; Microsatellite Repeats - genetics; Pedigree; Recombination, Genetic - genetics; Congenital dyserythropoietic anemia type II; Mapping, genetic; Chromosome 20; Linkage analysis; Genetic mapping; Human; Linkage; Dyserythropoietic anemia; Family study; Clinical form; Hemopathy; Chromosome F20; Congenital disease; Genetic disease
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/301609

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.