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

79 Citations (Scopus)

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

Fingerprint

Congenital Dyserythropoietic Anemia
Chromosomes
Chromosomes, Human, Pair 20
Inborn Genetic Diseases
Erythropoiesis
Microsatellite Repeats
Genetic Recombination
Genes
Anemia

ASJC Scopus subject areas

  • Genetics

Cite this

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

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. / Gasparini, P.; Miraglia Del Giudice, E.; Delaunay, J.; Totaro, A.; Granatiero, M.; Melchionda, S.; Zelante, L.; Iolascon, A.

In: American Journal of Human Genetics, Vol. 61, No. 5, 11.1997, p. 1112-1116.

Research output: Contribution to journalArticle

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, vol. 61, no. 5, pp. 1112-1116. https://doi.org/10.1086/301609
Gasparini, P. ; Miraglia Del Giudice, E. ; Delaunay, J. ; Totaro, A. ; Granatiero, M. ; Melchionda, S. ; Zelante, L. ; Iolascon, A. / Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. In: American Journal of Human Genetics. 1997 ; Vol. 61, No. 5. pp. 1112-1116.
@article{98853203284f40ba90e5eca251623b8a,
title = "Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search",
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.",
author = "P. Gasparini and {Miraglia Del Giudice}, E. and J. Delaunay and A. Totaro and M. Granatiero and S. Melchionda and L. Zelante and A. Iolascon",
year = "1997",
month = "11",
doi = "10.1086/301609",
language = "English",
volume = "61",
pages = "1112--1116",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",

}

TY - JOUR

T1 - Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

AU - Gasparini, P.

AU - Miraglia Del Giudice, E.

AU - Delaunay, J.

AU - Totaro, A.

AU - Granatiero, M.

AU - Melchionda, S.

AU - Zelante, L.

AU - Iolascon, A.

PY - 1997/11

Y1 - 1997/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=16944367512&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=16944367512&partnerID=8YFLogxK

U2 - 10.1086/301609

DO - 10.1086/301609

M3 - Article

C2 - 9345103

AN - SCOPUS:16944367512

VL - 61

SP - 1112

EP - 1116

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -