tailieunhanh - Báo cáo khoa hoc:" Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs | Journal of Negative Results in BioMedicine BioMed Central Research Open Access Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs Tanja Lippmann Sandra M Pasternack Britta Kraczyk Sabine E Dudek and Gabriele Dekomien Address Human Genetics Ruhr-University Bochum Germany Email Tanja Lippmann - Sandra M Pasternack - Britta Kraczyk - brittakraczyk@ Sabine E Dudek - sabineevad@ Gabriele Dekomien - Corresponding author Published 29 November 2006 Received 19 June 2006 Accepted 29 November 2006 Journal of Negative Results in BioMedicine 2006 5 19 doi 1477-5751-5-19 r This article is available from http content 5 l l9 2006 Lippmann et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Generalized progressive retinal atrophy gPRA is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes ATP binding cassette transporter retina ABCA4 connexin 36 CX36 c-mer tyrosin kinase receptor MERTK and photoreceptor cell retinol dehydrogenase RDH12 were investigated in order to identify mutations leading to autosomal recessive ar gPRA in 29 breeds of dogs. Results Mutation screening was performed initially by PCR and single strand conformation polymorphism SSCP analysis representing a simple method with comparatively high reliability for identification of sequence variations in many samples. Conspicuous banding patterns were analyzed via sequence analyses in order to detect the underlying nucleotide variations. No pathogenetically relevant mutations were detected in the genes ABCA4 CX36 MERTK .