Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family.
Ophthalmologica
; 220(1): 23-30, 2006.
Article
em En
| MEDLINE
| ID: mdl-16374045
ABSTRACT
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Glicoproteínas
/
Glaucoma de Ângulo Aberto
/
Proteínas do Citoesqueleto
/
Proteínas do Olho
/
Ligação Genética
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Oceania
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article