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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-12-23
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pubmed:abstractText |
Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci. Using penetrance-model-free methods, we screened the POAG loci GLC1A-F in an extended Australian pedigree, using 3-5 markers within each locus. p values of less than 0.05 were obtained empirically using SimWalk2 and exactly using Genehunter for 2 markers within the GLC1B region on chromosome 2. Fine mapping of this region produced p values of 0.01 or less at 5 markers flanked by D2S1897 and D2S2269. The 9 cM haplotype of interest overlaps the original GLC1B region. These results provide supportive evidence for the GLC1B locus on chromosome 2cen-q13 and verify the existence of POAG susceptibility gene in this region, increasing the likelihood of gene identification.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0030-3755
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pubmed:author |
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pubmed:copyrightInfo |
2006 S. Karger AG, Basel
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pubmed:issnType |
Print
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pubmed:volume |
220
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
23-30
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16374045-Adult,
pubmed-meshheading:16374045-Age of Onset,
pubmed-meshheading:16374045-Aged,
pubmed-meshheading:16374045-Chromosomes, Human, Pair 2,
pubmed-meshheading:16374045-Cytoskeletal Proteins,
pubmed-meshheading:16374045-DNA,
pubmed-meshheading:16374045-Eye Proteins,
pubmed-meshheading:16374045-Female,
pubmed-meshheading:16374045-Genetic Linkage,
pubmed-meshheading:16374045-Genetic Predisposition to Disease,
pubmed-meshheading:16374045-Glaucoma, Open-Angle,
pubmed-meshheading:16374045-Glycoproteins,
pubmed-meshheading:16374045-Haplotypes,
pubmed-meshheading:16374045-Humans,
pubmed-meshheading:16374045-Male,
pubmed-meshheading:16374045-Middle Aged,
pubmed-meshheading:16374045-Pedigree,
pubmed-meshheading:16374045-Polymerase Chain Reaction,
pubmed-meshheading:16374045-Tasmania,
pubmed-meshheading:16374045-Transcription Factor TFIIIA
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pubmed:year |
2006
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pubmed:articleTitle |
Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family.
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pubmed:affiliation |
Menzies Research Institute, Hobart, Tasmania, Australia.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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