| Structural variation in the human genome and its role in disease. | |
| | |
MedLine Citation:
|
PMID: 20059347 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
During the last quarter of the twentieth century, our knowledge about human genetic variation was limited mainly to the heterochromatin polymorphisms, large enough to be visible in the light microscope, and the single nucleotide polymorphisms (SNPs) identified by traditional PCR-based DNA sequencing. In the past five years, the rapid development and expanded use of microarray technologies, including oligonucleotide array comparative genomic hybridization and SNP genotyping arrays, as well as next-generation sequencing with "paired-end" methods, has enabled a whole-genome analysis with essentially unlimited resolution. The discovery of submicroscopic copy-number variations (CNVs) present in our genomes has changed dramatically our perspective on DNA structural variation and disease. It is now thought that CNVs encompass more total nucleotides and arise more frequently than SNPs. CNVs, to a larger extent than SNPs, have been shown to be responsible for human evolution, genetic diversity between individuals, and a rapidly increasing number of traits or susceptibility to traits; such conditions have been referred to as genomic disorders. In addition to well-known sporadic chromosomal microdeletion syndromes and Mendelian diseases, many common complex traits including autism and schizophrenia can result from CNVs. Both recombination- and replication-based mechanisms for CNV formation have been described. |
| | |
Authors:
|
Pawe? Stankiewicz; James R Lupski |
Related Documents
:
|
21047277 - Polymorphisms of insulin-like growth factor-1 (igf-1) and igf-1 receptor (igf-1r) contr... 19454037 - Genome-wide association study identifies single-nucleotide polymorphism in kcnb1 associ... 19571027 - Population-based molecular epidemiology of leprosy in cebu, philippines. 18466517 - Empirically derived subgroups in rheumatoid arthritis: association with single-nucleoti... 8750197 - Generation of a high-resolution genetic map and a yac contig of the lurcher locus on mo... 20950377 - Two novel wtx mutations underscore the unpredictability of male survival in osteopathia... |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Annual review of medicine Volume: 61 ISSN: 1545-326X ISO Abbreviation: Annu. Rev. Med. Publication Date: 2010 |
Date Detail:
|
Created Date: 2010-01-11 Completed Date: 2010-05-06 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 2985151R Medline TA: Annu Rev Med Country: United States |
Other Details:
|
Languages: eng Pagination: 437-55 Citation Subset: IM |
Affiliation:
|
Department of Molecular, Baylor College of Medicine, Houston, Texas 77030, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Genetic Predisposition to Disease
/
genetics* Genome, Human / genetics* Genomic Structural Variation / physiology* Humans Mutation Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Genetic aspects of pancreatitis.
Next Document: Surgical innovations arising from the Iraq and Afghanistan wars.