作者: Ander Anasagasti , Cristina Irigoyen , Olatz Barandika , Adolfo López de Munain , Javier Ruiz-Ederra
DOI: 10.1016/J.VISRES.2012.09.012
关键词: Human genome 、 Biology 、 DNA sequencing 、 Retinitis pigmentosa 、 Disease 、 Inheritance Patterns 、 Retinal degeneration 、 Mutation (genetic algorithm) 、 Compound heterozygosity 、 Genetics
摘要: With a worldwide prevalence of about 1 in 3500-5000 individuals, Retinitis Pigmentosa (RP) is the most common form hereditary retinal degeneration. It an extremely heterogeneous group genetically determined diseases leading to progressive loss vision due impairment rod and cone photoreceptors. RP can be inherited as autosomal-recessive, autosomal-dominant, or X-linked trait. Non-Mendelian inheritance patterns such digenic, maternal (mitochondrial) compound heterozygosity have also been reported. To date, more than 65 genes implicated syndromic non-syndromic forms RP, which account for only 60% all cases. Due this high heterogeneity diversity patterns, molecular diagnosis very challenging, heritability 40% total cases remains unknown. However new sequencing methodologies, boosted by human genome project, contributed exponential plummeting costs, thereby making it feasible include testing patients routine clinical practice within coming years. Here, we summarize widely used state-of-the-art technologies currently applied address their strengths weaknesses complex genetic disease.