Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

摘要: The oculocerebrorenal syndrome of Lowe (OCRL; McKusick 309 000) is a rare X-linked disorder characterized by mental retardation, congenital cataracts, and Fanconi the proximal renal tubules. We have carried out physical mapping OCRL1 gene determined that it contains 24 exons occupying 58 kb. gene, located in Xq25–26, transcribed centromeric to telomeric direction. Primers been developed allow all coding their intron/exon boundaries be amplified from genomic DNA for mutation detection. Two tetranucleotide tandem repeat polymorphisms were immediately flank and, together, are informative over 90% females. Variable splicing was seen transcript, involving small 24-bp exon. These results should prove useful medical molecular geneticists studying mutations providing diagnostic services families dealing with as well cell biologists interested structure-function relationships protein.