Analysis of MLPA Data Using Novel Software Coffalyser.NET by MRC-Holland

摘要: Genetic knowledge has increased tremendously in the last years, filling gaps and giving answers that were inaccessible before. Medical genetics seeks to understand how genetic variation relates human health disease (National Center for Biotechnology Information, 2008). Although plays a larger role general, of origins our understanding illnesses caused by abnormalities genes or chromosomes, offering potential improve diagnosis treatment patients. Normally, every person carries two copies gene (with exception related sex-linked traits), which cells can translate into functional protein. The presence mutant forms (mutations, copy number changes, insertion/deletions chromosomal alterations) may affect several processes concerning production these proteins often resulting development disorders. is either changes DNA somatic body it inherited, e.g. mutations germ parents. testing "the analysis of, chromosomes (DNA), proteins, certain metabolites order detect heritable disease-related genotypes, mutations, phenotypes, karyotypes clinical purposes (Holtzman et al, 2002). In make this suitable routine diagnostics dedicated, affordable, fast, easy-to-interpret simple-to-use tests are necessary. This allows scientists easily access information instance be used to: confirm rule out suspected condition help determine person's chance developing passing on disorder. Several hundred currently use, more being developed (Sequeiros Multiplex Ligationdependent Probe Amplification (MLPA) PCR-based technique, detecting RNA. MLPA quantify up 50 nucleic acid sequences one simple reaction, with resolution down single nucleotide level (Schouten al., 2002) needing only 20 ng DNA. procedure itself needs little hands work allowing 96 samples handled simultaneously while results obtained within 24 hours. These properties very efficient technique medium-throughput screening many different diseases both research diagnostic settings (Ahn 2007).