Variation in the protocadherin - A gene cluster?

Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Georgieva, Lyudmila, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Nikolov, Ivan, Norton, Nadine, Toncheva, Draga, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2003. Variation in the protocadherin - A gene cluster? Genomics 82 (4) , pp. 433-440. 10.1016/S0888-7543(03)00167-8

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Abstract

We screened for variation in the 12 protocadherin gamma A (PCDHGA) genes of the protocadherin cluster on chromosome 5q31. We used denaturing high-performance liquid chromatography followed by sequencing to identify changes in the DNA sequence. We identified 24 nonsynonymous changes, 24 synonymous SNPs, and 9 polymorphisms in the 5' flanking regions. The variant with the greatest predicted impact on the encoded protein was a frameshift polymorphism in PCDHGA8, caused by a deletion of one C base (Pro174fsdelC). The del variant was more common in 512 controls compared to 506 schizophrenic (SZ) cases (10.6% vs 7.2%, p=0.007) but this trend was not replicated in an independent sample of 403 trios, in which it was transmitted 47 times and not transmitted 55 times from heterozygous parents (p=0.43). We screened 10 of the common polymorphisms for association with schizophrenia by genotyping pooled DNA from 540 SZ cases and 540 controls, but none of them showed a significant difference. It will be important to identify the phenotype associated with the loss of the PCDHGA8 gene.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0888-7543
Last Modified:	17 Nov 2022 12:31
URI:	https://orca.cardiff.ac.uk/id/eprint/82039

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