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Association between the FOXP2 gene and autistic disorder in Chinese population
Gong, XH; Jia, MX; Ruan, Y; Shuang, M; Liu, J; Wu, SP; Guo, YQ; Yang, JZ; Ling, YS; Yang, XL; Zhang, D
关键词Autism Foxp2 Single Nucleotide Polymorphism Transmission/disequilibrium Test Haplotype Analysis
刊名AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
2004-05-15
DOI10.1002/ajmg.b.20162
127B期:1页:113-116
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity ; Psychiatry
研究领域[WOS]Genetics & Heredity ; Psychiatry
关键词[WOS]SUSCEPTIBILITY GENE ; LANGUAGE DISORDER ; GENOMIC SCREEN ; ABNORMALITIES ; TRANSMISSION ; MUTATION ; LINKAGE ; REGION ; SPEECH
英文摘要

Several genomewide screens indicated that chromosome 7q was linked to autistic disorder. FOXP2, located on 7q31, is a putative transcription factor containing a polyglutamine tract and a forkhead DNA binding domain. It is one member of the forkhead family who are known to be key regulators of embryogenesis. A point mutation at a highly conserved residue within the forkhead domain co-segregated with affected status in the KE family who was a unique three generation pedigree with a severe speech and language disorder and FOXP2 was directly disrupted by a translocation in an individual who had similar deficits as those of the KE family. Several studies have investigated the role of FOXP2 polymorphisms in autism and none of them found positive association. We performed a family-based association study of three single nucleotide polymorphisms (SNPs) of FOXP2 in 181 Chinese Han trios using the analyses of transmission/disequilibrium test (TDT) and haplotype. We found a significant association between autistic disorder and one SNP, as well as with specific haplotypes formed by this SNP with two other SNPs we investigated. Our findings suggest that the FOXP2 gene may be involved in the pathogenesis of autism in Chinese population. (C) 2004 Wiley-Liss, Inc.

语种英语
WOS记录号WOS:000221136100022
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被引频次:45[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53059
专题北京大学精神卫生研究所
北京大学第一临床医学院_妇产科
北京大学精神卫生研究所_精神科
作者单位Peking Univ, Inst Mental Hlth, Beijing 100083, Peoples R China
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Gong, XH,Jia, MX,Ruan, Y,et al. Association between the FOXP2 gene and autistic disorder in Chinese population[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS,2004,127B(1):113-116.
APA Gong, XH.,Jia, MX.,Ruan, Y.,Shuang, M.,Liu, J.,...&Zhang, D.(2004).Association between the FOXP2 gene and autistic disorder in Chinese population.AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS,127B(1),113-116.
MLA Gong, XH,et al."Association between the FOXP2 gene and autistic disorder in Chinese population".AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 127B.1(2004):113-116.
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