Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter)
| Autor: | Gordon W. Stewart, J.F. Ajetunmobi, Paolo Gasparini, Silverio Perrotta, Jean Delaunay, Gil Tchernia, Leopoldo Zelante, Achille Iolascon, Massimo Carella, A. Totaro, S. Grootenboer |
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| Přispěvatelé: | Carella, M, Stewart, G, Ajetunmobi, Jf, Perrotta, S, Grootenboer, S, Tchernia, G, Delaunay, J, Totaro, A, Zelante, L, Gasparini, P, Iolascon, Achille, Perrotta, Silverio, Iolascon, A., Gasparini, Paolo |
| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Genetic Markers
Male Anemia Hemolytic Cell Membrane Permeability Databases Factual Erythrocytes Abnormal Locus (genetics) Biology 03 medical and health sciences Membrane Lipids 0302 clinical medicine Chromosome 16 Gene mapping Genetics medicine Humans Genetics(clinical) Xerocytosis Familial pseudohyperkalemia Genetics (clinical) 030304 developmental biology 0303 health sciences Genome Human Erythrocyte Membrane Sodium Autosomal dominant trait Chromosome Mapping medicine.disease 3. Good health Pedigree Mapping Hereditary stomatocytosis Dehydrated hereditary stomatocytosis Phosphatidylcholines Potassium Female Dehydrated hereditary stomatocytosis (DHS) Lod Score Linkage analysis Stomatocytosis Chromosomes Human Pair 16 030215 immunology Research Article |
| Popis: | SummaryDehydrated hereditary stomatocytosis, also known as “hereditary xerocytosis,” is caused by a red blood cell–membrane defect characterized by stomatocytic morphology, increased mean corpuscular hemoglobin concentration, decreased osmotic fragility, increased permeability to the univalent cations Na+ and K+, and an increased proportion of phosphatidylcholine in the membrane. The clinical presentation is heterogeneous, ranging from mild to moderate hemolytic anemia associated with scleral icterus, splenomegaly, and choletithiasis. Iron overload may develop later in life. The disease is transmitted as an autosomal dominant trait. We recruited a large three-generation Irish family affected with DHS and comprising 23 members, of whom 14 were affected and 9 were healthy. Two additional, small families also were included in the study. The DNA samples from the family members were used in a genomewide search to identify, by linkage analysis, the DHS locus. After the exclusion of a portion of the human genome, we obtained conclusive evidence for linkage of DHS to microsatellite markers on the long arm of chromosome 16 (16q23-q24). A maximum two-point LOD score of 6.62 at recombination fraction .00 was obtained with marker D16S520. There are no recombination events defining the telomeric limit of the region, which therefore is quite large. No candidate genes map to this area. |
| Databáze: | OpenAIRE |
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