Positional cloning of deafness genes.
作者： Hannie Kremer , Frans P.M. Cremers
DOI: 10.1007/978-1-59745-523-7_13
关键词:
摘要: The identification of the majority known causative genes involved in nonsyndromic sensorineural hearing loss (NSHL) started with linkage analysis as part a positional cloning procedure. human and mouse genome projects combination technical developments on genotyping, transcriptomics, proteomics, creation animal models have greatly enhanced speed disease gene identification. In present chapter, we first discuss possibilities for exclusion NSHL loci genes. Subsequently, methods are described to determine genomic regions that contain genetic defects. These include genotyping statistical evaluation determination copy number variations. case large region, candidate selected prioritized using expression analysis, protein network data, phenotypes models. A algorithms automate process selection. novel high-throughput sequencing techniques might make selection prioritization unnecessary near future. Once variants identified, questions pathogenicity need be addressed, which is topic last section this chapter.
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