Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

被引：36

作者：

Bonora, E

Bacchelli, E

Levy, ER

Blasi, F

Marlow, A

Monaco, AP

Maestrini, E

机构：

[1] Univ Bologna, Dipartimento Biol Evoluzionist Sperimentale, I-40126 Bologna, Italy

[2] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

来源：

MOLECULAR PSYCHIATRY | 2002年 / 7卷 / 03期

基金：

英国惠康基金;

关键词：

autism; candidate genes; mutation screening; methlylation; imprinting; PEG1/MEST; COPG2; carboxypeptidase A; 7q32;

D O I：

10.1038/sj.mp.4001004

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an Imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5-a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role In autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.

引用

页码：289 / 301

页数：13

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