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Analysis of reelin as a candidate gene for autism

Bonora,E., Beyer,K.S., Lamb, J, Parr,J.R., Klauck,S.M., Benner,A., Paolucci,M., Abbott,A., Ragoussis,I., Poustka,A., Bailey,A.J., Monaco,A.P

Mol. Psychiatry. 2003;8(10):885-892.

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Abstract

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

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Publication form:
Published date:
Journal title:
Volume:
8
Issue:
10
Start page:
885
End page:
892
Total:
8
Pagination:
885-892
Digital Object Identifier:
10.1038/sj.mp.4001310
General notes:
  • DA - 20030929IS - 1359-4184 (Print)LA - engPT - Journal ArticlePT - Research Support, Non-U.S. Gov'tPT - Research Support, U.S. Gov't, P.H.SRN - 0 (Cell Adhesion Molecules, Neuronal)RN - 0 (Extracellular Matrix Proteins)RN - 0 (Nerve Tissue Proteins)RN - EC 3.4.21.- (Serine Endopeptidases)RN - EC 3.4.21.- (reelin protein)SB - IM
Access state:
Active

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d17680
Created:
30th August, 2009, 14:30:06
Last modified by:
Lamb, Janine
Last modified:
16th November, 2012, 23:29:34

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