Analysis of reelin as a candidate gene for autism

被引：94

作者：

Bonora, E

Beyer, KS

Lamb, JA

Parr, JR

Klauck, SM

Benner, A

Paolucci, M

Abbott, A

Ragoussis, I

Poustka, A

Bailey, AJ

Monaco, AP

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Deutsch Krebsforschungszentrum, Dept Mol Genome Anal, D-6900 Heidelberg, Germany

[3] Deutsch Krebsforschungszentrum, Dept Biostat, D-6900 Heidelberg, Germany

[4] Inst Psychiat, Ctr Social Genet & Dev Psychiat, London SE5 8AF, England

[5] Inst Psychiat, Dept Child & Adolescent Psychiat, London SE5 8AF, England

来源：

MOLECULAR PSYCHIATRY | 2003年 / 8卷 / 10期

关键词：

autism; candidate genes; brain development; reelin; mutation screening;

D O I：

10.1038/sj.mp.4001310

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 relevant gene(s) and report here the analysis of reelin ( RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.

引用

页码：885 / 892

页数：8

共 30 条

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