Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1994-2-22
|
| pubmed:abstractText |
X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an autonomous disorder that poses significant clinical problems, causing affected individuals to be blind and deaf by early middle age. Classical X-linked ocular albinism (without deafness; OA1) has recently been linked to markers in the Xp22.2-Xp22.3 region of the human genome. In the present report, a large South African family with OASD was investigated at the molecular level and tight linkage was found to the DXS452 locus at Xp22.3 using 25 informative meioses, with a maximum lod score of 7.1 at a recombination fraction of 0.00. These findings suggest that OA1 and OASD are allelic variants or that they may be due to contiguous gene defects.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0888-7543
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
18
|
| pubmed:geneSymbol |
OASD
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
444-5
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:8288253-Albinism, Ocular,
pubmed-meshheading:8288253-Deafness,
pubmed-meshheading:8288253-Female,
pubmed-meshheading:8288253-Genetic Linkage,
pubmed-meshheading:8288253-Humans,
pubmed-meshheading:8288253-Male,
pubmed-meshheading:8288253-Pedigree,
pubmed-meshheading:8288253-X Chromosome
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.
|
| pubmed:affiliation |
Department of Human Genetics, University of Cape Town Medical School, South Africa.
|
| pubmed:publicationType |
Journal Article
|