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Absence of associat...
Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.
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Krebs, Marie-Odile (författare)
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Betancur, Catalina (författare)
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Sophie, Leroy (författare)
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Bourdel, Marie-Chantal (författare)
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- Gillberg, Christopher, 1950 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
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Leboyer, Marion (författare)
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(creator_code:org_t)
- 2002-08-23
- 2002
- Engelska.
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 7:7, s. 801-804
- Relaterad länk:
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https://www.nature.c...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Autism is a complex neurodevelopmental disorder with severe cognitive and communication disabilities, that has a strong genetic predisposition predisposition.1 Reelin, a protein involved in neuronal migration during development, is encoded by a gene located on 7q22, 7q22,2 within the candidate region on 7q showing increased allele sharing in previous genome scans. 3–8 A case/control and family-based association study recently reported a positive association between a trinucleotide repeat polymorphism (GGC) located in the 5′ untranslated region (UTR) of the reelin gene and autism. 9 We performed a transmission disequilibrium test (TDT) analysis of the 5′UTR polymorphism in 167 families including 218 affected subjects (117 trios and 50 affected sib pairs) and found no evidence of linkage/association. Our results do not support previous findings and suggest that the reelin gene is unlikely to play a major role as a susceptibility factor in autism and/or genetic heterogeneity.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Nyckelord
- 5' Untranslated Regions
- genetics
- Autistic Disorder
- genetics
- Cell Adhesion Molecules
- Neuronal
- genetics
- Extracellular Matrix Proteins
- genetics
- Family Health
- Female
- Genotype
- Humans
- Linkage Disequilibrium
- Male
- Nerve Tissue Proteins
- Serine Endopeptidases
- Trinucleotide Repeats
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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