A novel locus for X-linked congenital cataract on Xq24.
Mol Vis
; 14: 721-6, 2008 Apr 18.
Article
em En
| MEDLINE
| ID: mdl-18431456
ABSTRACT
PURPOSE:
This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.METHODS:
A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.RESULTS:
A linkage was detected on Xq24 with the maximum LOD score of 2.53 at theta=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals.CONCLUSIONS:
A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Cromossomos Humanos X
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Genes Ligados ao Cromossomo X
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article