A novel locus ( XXXX ) for @entity6121 on chromosome 2q24.2-2q33.1.

@entity5439 @entity19982 @entity1105 @entity72996 @entity6391 @entity1939 @entity32846 @entity6121 @entity72995 @entity72997 @entity20034
BACKGROUND: @entity6391 , also known as @entity6391 ( @entity6391 ), and @entity6391 ( @entity6391 ) @entity1105 leading to @entity1939 . To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with @entity6121 . METHODS: Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing. RESULTS: We first excluded the involvement of known @entity20034 and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at    = 0 for this locus. Five candidate genes, @entity72995 , @entity72996 , @entity72997 , @entity32846 , and @entity19982 within this locus, were not mutated. CONCLUSION: A novel locus for adCRD, named @entity5439 , has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.
