World Library  


Add to Book Shelf
Flag as Inappropriate
Email this Book

Plos One : Cnv Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in Col8A1and Nrxn1, Volume 8

By Zhang, Ge

Click here to view

Book Id: WPLBN0003945473
Format Type: PDF eBook :
File Size:
Reproduction Date: 2015

Title: Plos One : Cnv Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in Col8A1and Nrxn1, Volume 8  
Author: Zhang, Ge
Volume: Volume 8
Language: English
Subject: Journals, Science, Medical Science
Collections: Periodicals: Journal and Magazine Collection
Historic
Publication Date:
Publisher: Plos

Citation

APA MLA Chicago

Zhang, G. (n.d.). Plos One : Cnv Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in Col8A1and Nrxn1, Volume 8. Retrieved from http://netlibrary.net/


Description
Description : Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179) have a significant excess (P = 0.006) of large CNV (.500 kb) calls compared to controls (N = 234). Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ,400kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases) validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

 

Click To View

Additional Books


  • Plos One : Agent-based Models of Strateg... (by )
  • Plos One : Deep Sequencing of Rna from A... (by )
  • Plos One : Affective Dimensions of Inter... (by )
  • Plos One : Uncertainties in Measuring Po... (by )
  • Plos One : Cycles and the Qualitative Ev... (by )
  • Plos One : Liver Gene Transfer of Interk... (by )
  • Plos One : Phase Contrast Imaging Reveal... (by )
  • Plos One : Denitrification and Anammox i... (by )
  • Plos One : Intravitreal Transplantation ... (by )
  • Plos One : Compound A, a Selective Gluco... (by )
  • Plos One : Metabolomics Reveals Metaboli... (by )
  • Plos One : Infant Feeding and School Att... (by )
Scroll Left
Scroll Right

 



Copyright © World Library Foundation. All rights reserved. eBooks from World Library are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.