Association of specific language impairment (SLI) to the region of 7q31

被引:73
作者
O'Brien, EK
Zhang, XY
Nishimura, C
Tomblin, JB
Murray, JC
机构
[1] Univ Iowa, Dept Otolaryngol, Iowa City, IA USA
[2] Univ Iowa, Dept Speech Pathol & Audiol, Iowa City, IA 52242 USA
[3] Univ Iowa, Coll Med, Dept Pediat, Iowa City, IA 52242 USA
关键词
D O I
10.1086/375403
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:1536 / 1543
页数:8
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