儿科

CNTNAP2基因与中国汉族人群语言障碍显著相关

作者:刘爽 编译 来源:医学论坛网 日期:2016-01-17
导读

         

CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population
Yun-Jing Zhao, Yue-Ping Wang, Wen-Zhu Yang, Hong-Wei Sun, Hong-Wei Ma,Ya-Ru Zhao
Abstract
Speech sound disorder is the most common communication disorder. Some investigations support the possibility that the CNTNAP2 gene might be involved in the pathogenesis of speech-related diseases. To investigate single-nucleotide polymorphisms in the CNTNAP2 gene, 300 unrelated speech sound disorder patients and 200 normal controls were included in the study. Five single-nucleotide polymorphisms were amplified and directly sequenced. Significant differences were found in the genotype (P = .0003) and allele (P = .0056) frequencies of rs2538976 between patients and controls. The excess frequency of the A allele in the patient group remained significant after Bonferroni correction (P = .0280). A significant haplotype association with rs2710102T/+rs17236239A/+2538976A/+2710117A (P = 4.10e-006) was identified. A neighboring single-nucleotide polymorphism, rs10608123, was found in complete linkage disequilibrium with rs2538976, and the genotypes exactly corresponded to each other. The authors propose that these CNTNAP2variants increase the susceptibility to speech sound disorder. The single-nucleotide polymorphisms rs10608123 and rs2538976 may merge into one single-nucleotide polymorphism.
doi:10.1177/0883073815581609
J Child Neurol November 2015 vol. 30 no. 13 1806-1811

分享:

评论

我要跟帖
发表
回复 小鸭梨
发表

copyright©医学论坛网 版权所有,未经许可不得复制、转载或镜像 京ICP证120392号 京公网安备11010502031486号

京卫网审[2013]第0193号

互联网药品信息服务资格证书:(京)-经营性-2012-0005

//站内统计 //百度统计 //站长统计
*我要反馈: 姓    名: 邮    箱: