Loading...
Please wait, while we are loading the content...
Similar Documents
Genetic Variation Analysis of Neuropsychiatric Traits
| Content Provider | Scilit |
|---|---|
| Author | Zwick, Michael E. Cutler, David J. Chakravarti, Aravinda |
| Copyright Year | 2001 |
| Description | The recent history and rapid progress of human genetics has largely consisted of the application of Mendelian genetics to identify rare allelic variants with large phenotypic effects. The rare variants that underlie “Mendelian traits” have a number of characteristics that have suggested the experimental approach employed to identify them. These rare variants are often deleterious missense mutations of very recent origin. Although rare in the entire human population, they are shared by the closely related members of a family. Within families, their genetics is usually simple — often only one or two different missense mutations in a single candidate gene lead to the same phenotype. Subsequent surveys of genetic variation among unrelated, phenotypically similar individuals often identify an extraordinary number of rare missense mutations in the same candidate $gene.^{ 1 }$ In all of these cases, however, because the mutations are of recent origin, they are significantly associated with other pre-existing genetic variation in the surrounding genomic region. It is because of these many characteristics, even with few markers and incomplete genetic maps, that the mapping and identification of Mendelian traits has progressed so $rapidly.^{ 12 }$ Book Name: Methods in Genomic Neuroscience |
| Related Links | https://content.taylorfrancis.com/books/download?dac=C2010-0-33430-9&isbn=9780429126192&doi=10.1201/9781420038477-18&format=pdf |
| Ending Page | 310 |
| Page Count | 14 |
| Starting Page | 297 |
| DOI | 10.1201/9781420038477-18 |
| Language | English |
| Publisher | Informa UK Limited |
| Publisher Date | 2001-09-26 |
| Access Restriction | Open |
| Subject Keyword | Book Name: Methods in Genomic Neuroscience Traits Genetic Variation Surveys Rare Variants Candidate Missense Mutations Mendelian |
| Content Type | Text |
| Resource Type | Chapter |
