Localization of the Gene Responsible for Familial Benign Polycythemia to Chromosome 11q23

Familial benign polycythemia (FBP) (OMIM 263400) is a rare autosomal recessive condition characterized by erythrocytosis, normal leukocyte and platelet counts, normal uric acid level, and usually increased erythropoietin production. There is a high incidence of this disorder in Chuvashia (Russian Fe...

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Published inHuman heredity Vol. 49; no. 3; pp. 129 - 132
Main Authors Vasserman, Natalia N., Karzakova, Luisa M., Tverskaya, Svetlana M., Saperov, Vladimir N., Muchukova, Olga M., Pavlova, Galina P., Efimova, Nadejda K., Vankina, Natalia N., Evgrafov, Oleg V.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.01.1999
Subjects
Chromosome Mapping
Chromosomes, Human, Pair 11 - genetics
DNA - genetics
Family Health
Female
Genotype
Haplotypes
Humans
Male
Microsatellite Repeats
Original Paper
Phenotype
Polycythemia - genetics
Polycythemia - pathology
Linkage
Familial benign polycythemia
Erythrocytosis
Chromosome 11q23
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Summary:Familial benign polycythemia (FBP) (OMIM 263400) is a rare autosomal recessive condition characterized by erythrocytosis, normal leukocyte and platelet counts, normal uric acid level, and usually increased erythropoietin production. There is a high incidence of this disorder in Chuvashia (Russian Federation), probably due to a founder effect. In an attempt to locate the gene responsible for this disorder, we have carried out linkage studies in 12 Chuvash families, with 35 affected and 32 unaffected members. Linkage to the erythropoietin and erythropoietin receptor loci was excluded, and the FBP gene was assigned to the region of chromosome 11q23 between D11S4142 and D11S1356, with a maximal lod score of 6.61.
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content type line 23
ISSN:0001-5652
1423-0062
DOI:10.1159/000022859