دورية أكاديمية
Association study of SHANK3 gene polymorphisms with autism in Chinese Han population
| العنوان: | Association study of SHANK3 gene polymorphisms with autism in Chinese Han population |
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| المؤلفون: | Ruan Yan, Lu Tianlan, Wang Lifang, Jia Meixiang, Qin Jian, Liu Jing, Guo Yanqing, Zhang Jishui, Yang Xiaoling, Yue Weihua, Zhang Dai |
| المصدر: | BMC Medical Genetics, Vol 10, Iss 1, p 61 (2009) |
| بيانات النشر: | BMC, 2009. |
| سنة النشر: | 2009 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD) of excitatory synapse. Rare mutations and copy number variation (CNV) evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism. Methods We performed an association study between SHANK3 gene polymorphisms and autism in Chinese Han population. We analyzed the association between five single nucleotide polymorphisms (SNPs) of the SHANK3 gene and autism in 305 Chinese Han trios, using the family based association test (FBAT). Linkage disequilibrium (LD) analysis showed the presence of LD between pairwise markers across the locus. We also performed mutation screening for the rare de novo mutations reported previously. Results No significant evidence between any SNPs of SHANK3 and autism was observed. We did not detect any mutations described previously in our cohort. Conclusion We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1471-2350 |
| Relation: | http://www.biomedcentral.com/1471-2350/10/61; https://doaj.org/toc/1471-2350 |
| DOI: | 10.1186/1471-2350-10-61 |
| URL الوصول: | https://doaj.org/article/3dda20f80abf4ccbaa3d03318f346399 |
| رقم الأكسشن: | edsdoj.3dda20f80abf4ccbaa3d03318f346399 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 14712350 |
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| DOI: | 10.1186/1471-2350-10-61 |