Investigation of Autism and Single Nucleotide Polymorphisms of intron in GABRA5 Gene in Chinese Population

摘要：

Autism is a complex genetic neuropsychiatric condition characterized by deficits in social interaction and language and patterns of repetitive or stereotyped behaviors and restricted interests. Previous studies indicated association of single nucleotide polymorphisms within a GABA receptor subunit gene within Caucasian autism patients. In this paper, we genotyped two SNPs (hCV252720, hCV27725; http://www.ncbi.nlm.nih.gov/SNP/) in the intronic regions within the GABRA5 gene in Chinese populations. Case-control study and haplotype analysis were used to analyze the association of GABRA5 gene with autism. Result indicated that SNP hCV252720 had a significant genotype association with autism, and C allele of hCV252720 was prone to transmit. It can be inferred that polymorphisms in introns are important regulatory factors for autism.GABRA5; SNP; haplotype; autism; association

关键词： GABRA5 SNP haplotype autism association

作者: Ming-Hao Zhang Lu Cheng Xiao-Yan Ke Ping Chen Bei-Li Sun Zu-Hong Lu

作者单位: Key Laboratory of Child Development and Learning Science, Ministry of Education,Research Center for State Key Laboratory of Bioelectronics, Southeast University, Nanjing, China, 210096 Key Laboratory of Child Development and Learning Science, Ministry of Education,Research Center for Key Laboratory of Child Development and Learning Science, Ministry of Education,Research Center for

会议类型: 国际会议

会议名称: The 5th International Forum on Post-genome Technologies(5IFPT)(第五届国际后基因组生命科学技术学术论坛)

会议地点: 苏州

会议语种:英文

在线出版日期: 2007-09-10（万方平台首次上网日期，不代表论文的发表时间）