Association of specific language impairment (SLI) to the region of 7q31
Association of specific language impairment (SLI) to the region of 7q31
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DOI：
10.1086/375403
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发表时间：
2003-06-01
影响因子：
9.8
通讯作者：
Murray, JC
中科院分区：
文献类型：
--
作者：
O'Brien, EK;Zhang, XY;Murray, JC
FOXP 2（forkhead box P2）是第一个突变影响人类言语和语言能力的基因。一种常见的发育性语言障碍，即特殊语言障碍（SLI），影响6%-7%的非语言智力正常的儿童，并且在家族和双胞胎研究中有遗传基础的证据。FOXP 2位于染色体7 q31上，对包括自闭症在内的其他语言障碍和语言障碍的研究发现，FOXP 2与该区域有关。在本研究中，来自SLI儿童及其家庭成员的样本用于研究SLI与FOXP 2内和周围标记的连锁和关联，并直接测序来自96名SLI先证者的样本FOXP 2外显子14的突变。在FOXP 2的外显子14中未发现突变，但发现与CFTR基因内的标记物和7 q31上的另一个标记物D 7S 3052强相关，两者都与FOXP 2相邻，这表明调节共同语言障碍的遗传因素位于FOXP 2附近。
FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects human speech and language abilities. A common developmental language disorder, specific language impairment (SLI), affects 6%-7% of children with normal nonverbal intelligence and has evidence of a genetic basis in familial and twin studies. FOXP2 is located on chromosome 7q31, and studies of other disorders with speech and language impairment, including autism, have found linkage to this region. In the present study, samples from children with SLI and their family members were used to study linkage and association of SLI to markers within and around FOXP2, and samples from 96 probands with SLI were directly sequenced for the mutation in exon 14 of FOXP2. No mutations were found in exon 14 of FOXP2, but strong association was found to a marker within the CFTR gene and another marker on 7q31, D7S3052, both adjacent to FOXP2, suggesting that genetic factors for regulation of common language impairment reside in the vicinity of FOXP2.