Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1996-12-3
|
| pubmed:abstractText |
The GLC1A locus for autosomal dominant primary open-angle glaucoma (POAG) with juvenile onset (before 20 years) has been mapped to chromosome 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed and linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted the distal boundary of the GLC1A interval proximal to the AFM154xc9 marker. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
98
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
567-71
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:8882876-Adolescent,
pubmed-meshheading:8882876-Adult,
pubmed-meshheading:8882876-Age Factors,
pubmed-meshheading:8882876-Canada,
pubmed-meshheading:8882876-Child,
pubmed-meshheading:8882876-Chromosome Mapping,
pubmed-meshheading:8882876-Chromosomes, Human, Pair 1,
pubmed-meshheading:8882876-Female,
pubmed-meshheading:8882876-France,
pubmed-meshheading:8882876-Genetic Linkage,
pubmed-meshheading:8882876-Glaucoma, Open-Angle,
pubmed-meshheading:8882876-Haploidy,
pubmed-meshheading:8882876-Humans,
pubmed-meshheading:8882876-Lod Score,
pubmed-meshheading:8882876-Male,
pubmed-meshheading:8882876-Middle Aged,
pubmed-meshheading:8882876-Pedigree,
pubmed-meshheading:8882876-Phenotype,
pubmed-meshheading:8882876-Software
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.
|
| pubmed:affiliation |
INSERM U25, Hôpital Necker, Paris, France.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|