首页   按字顺浏览 期刊浏览 卷期浏览 Systematic screening for mutations in the glycine receptor α2 subunit gene (GLRA2...
Systematic screening for mutations in the glycine receptor α2 subunit gene (GLRA2) in patients with schizophrenia and other psychiatric diseases

 

作者: Jinong Feng,   Nick Craddock,   Ian R. Jones,   Edwin H. Cook,   David Goldman,   Leonard L. Heston,   Leena Peltonen,   Lynn E. DeLisi,   Steve S. Sommer,  

 

期刊: Psychiatric Genetics  (OVID Available online 2001)
卷期: Volume 11, issue 1  

页码: 45-48

 

ISSN:0955-8829

 

年代: 2001

 

出版商: OVID

 

关键词: GLRA2;schizophrenia;detection of virtually all mutations–SSCP

 

数据来源: OVID

 

摘要:

The glycine receptor, which is a member of the ligand‐gated ion channel superfamily, mediates synaptic inhibition in the spinal cord and other brain regions. This superfamily has been implicated in the pathogenesis of schizophrenia and other psychiatric diseases. The complete coding sequence and splice junctions of the GLRA2 gene were scanned by DOVAM‐S, a form of SSCP analysis with sufficient redundancy to detect virtually all mutations. Those analyses were performed in 113 patients with schizophrenia, and in pilot studies of patients with bipolar illness, alcoholism, puerperal psychosis, autism, and attention‐deficit hyperactivity disorder (533 kb total scanned sequences). We detected three sequence changes in the coding region, all resulting in silent mutations: C894T in exon 5, C1134T in exon 7, and C1476T in exon 9. These do not alter the structure or the expression of the protein. It is unlikely that mutations in the coding region and splice junction of GLRA2 gene are associated with schizophrenia and other psychiatric diseases.

 

点击下载:  PDF (61KB)



返 回