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Article: Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by Homozygosity mapping

TitleLocalization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by Homozygosity mapping
Authors
Issue Date1999
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1999, v. 64 n. 1, p. 165-171 How to Cite?
AbstractFamilial hemophagocytic lymphohistiocytosis (FHL), also known as familial erythrophagocytic lymphohistiocytosis and familial histiocytic reticulosis, is a rare autosomal recessive disorder of early childhood characterized by excessive immune activation. Linkage of the disease gene to an ~7.8-cM region between markers D9S1867 and D9S1790 at 9q21.3-22 was identified by homozygosity mapping in four inbred FHL families of Pakistani descent with a combined maximum multipoint LOD score of 6.05. This is the first genetic locus to be described in FHL. However, homozygosity by descent across this interval could not be demonstrated in an additional affected kindred of Arab origin, whose maximum multipoint LOD score was -0.12. The combined sample revealed significant evidence for linkage to 9q markers (LOD score with heterogeneity, 5.00). Identification of the gene(s) involved in the pathogenesis of FHL will contribute to an understanding of the control of T-lymphocyte and macrophage activation, which is central to homeostasis in the immune system.
Persistent Identifierhttp://hdl.handle.net/10722/175806
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOhadi, Men_US
dc.contributor.authorLalloz, MRAen_US
dc.contributor.authorSham, Pen_US
dc.contributor.authorZhao, Jen_US
dc.contributor.authorDearlove, AMen_US
dc.contributor.authorShiach, Cen_US
dc.contributor.authorKinsey, Sen_US
dc.contributor.authorRhodes, Men_US
dc.contributor.authorLayton, DMen_US
dc.date.accessioned2012-11-26T09:01:27Z-
dc.date.available2012-11-26T09:01:27Z-
dc.date.issued1999en_US
dc.identifier.citationAmerican Journal Of Human Genetics, 1999, v. 64 n. 1, p. 165-171en_US
dc.identifier.issn0002-9297en_US
dc.identifier.urihttp://hdl.handle.net/10722/175806-
dc.description.abstractFamilial hemophagocytic lymphohistiocytosis (FHL), also known as familial erythrophagocytic lymphohistiocytosis and familial histiocytic reticulosis, is a rare autosomal recessive disorder of early childhood characterized by excessive immune activation. Linkage of the disease gene to an ~7.8-cM region between markers D9S1867 and D9S1790 at 9q21.3-22 was identified by homozygosity mapping in four inbred FHL families of Pakistani descent with a combined maximum multipoint LOD score of 6.05. This is the first genetic locus to be described in FHL. However, homozygosity by descent across this interval could not be demonstrated in an additional affected kindred of Arab origin, whose maximum multipoint LOD score was -0.12. The combined sample revealed significant evidence for linkage to 9q markers (LOD score with heterogeneity, 5.00). Identification of the gene(s) involved in the pathogenesis of FHL will contribute to an understanding of the control of T-lymphocyte and macrophage activation, which is central to homeostasis in the immune system.en_US
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAllelesen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 9en_US
dc.subject.meshConsanguinityen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHistiocytosis, Non-Langerhans-Cell - Geneticsen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshLod Scoreen_US
dc.subject.meshMaleen_US
dc.subject.meshMicrosatellite Repeatsen_US
dc.subject.meshPakistanen_US
dc.subject.meshPedigreeen_US
dc.titleLocalization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by Homozygosity mappingen_US
dc.typeArticleen_US
dc.identifier.emailSham, P: pcsham@hku.hken_US
dc.identifier.authoritySham, P=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1086/302187en_US
dc.identifier.pmid9915955-
dc.identifier.scopuseid_2-s2.0-0033361023en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033361023&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume64en_US
dc.identifier.issue1en_US
dc.identifier.spage165en_US
dc.identifier.epage171en_US
dc.identifier.isiWOS:000078477400021-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridOhadi, M=8343649800en_US
dc.identifier.scopusauthoridLalloz, MRA=6701451634en_US
dc.identifier.scopusauthoridSham, P=34573429300en_US
dc.identifier.scopusauthoridZhao, J=7410311266en_US
dc.identifier.scopusauthoridDearlove, AM=6602307021en_US
dc.identifier.scopusauthoridShiach, C=36955950100en_US
dc.identifier.scopusauthoridKinsey, S=55406703800en_US
dc.identifier.scopusauthoridRhodes, M=8214936300en_US
dc.identifier.scopusauthoridLayton, DM=7006791228en_US

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