Fragment analysis by CE has been recommended by the European Molecular Quality Genetics Network (EQMN) as the default analytical method for analyzing triplet repeat length in spinocerebellar ataxias (SCAs, 2) and Huntington disease (3). Polymerase chain reaction followed by fragment length analysis is the most common – indeed, the preferred – method to analyze changes in repeat length in these diseases. It is therefore critical to monitor the repeat length of these microsatellite sequences, especially in individuals who are at-risk. The disease severity may worsen from generation to generation due to de novo germline expansion of repeats. The pathology often arises when the repeat sequence, which in normal alleles can range from 15 to 40 repeats, expands to exceed a disease specific threshold, usually greater than 45 repeats. Different fragment analysis applications Triplet repeat neurodegenerative diseasesįor example, a class of neurodegenerative diseases, known triplet repeat diseases, are linked to expansions of microsatellite repeats found within translated or untranslated gene regions of certain genes (1). Neuroscience researchers rely on fragment analysis on CE instruments as an important tool for understanding genetic anomalies in neuropathologies. Along with the ability to label fragments with up to four different fluorophores, researchers have a large degree of flexibility in experimental design. Because of the flexibility afforded with the choice of PCR primers, a specifically sized fragment corresponding to a PCR target sequence is straightforward to generate. One of the most common methods of generating fragments for analysis is polymerase chain reaction (PCR). Beyond sequencing Analysis of fragment length by CEįragment analysis is a highly flexible method that involves the separation of different-sized and differentially labeled DNA fragments by CE. We are only beginning to understand the interplay between genetic changes and brain function, but it is important for us to do so, both for economic reasons but also for the affected individual and their loved ones. These issues can manifest as changes in a person’s perception, behavior, mobility – almost anything that affects the way we interact with our world. However, with this complexity comes increased chances that things can go wrong. Even more amazingly, the human genome contains instructions for building, using, maintaining and repairing this extraordinarily complicated tissue.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |