期刊
HUMAN HEREDITY
卷 57, 期 1, 页码 10-20出版社
KARGER
DOI: 10.1159/000077385
关键词
autism; language impairment; multiple data sets; heterogeneity; linkage analysis
资金
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH052841, R55MH052841] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [R01DC001654, R01DC001854] Funding Source: NIH RePORTER
- NIDCD NIH HHS [R01 DC01654, R01 DC001854-08] Funding Source: Medline
- NIMH NIH HHS [MH52841, R01 MH052841] Funding Source: Medline
Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of language and language learning skills. This contrasts with autism, which is a pervasive developmental disorder defined by multiple impairments in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies and family data suggest that the two disorders may have genetic components in common. Two samples, from Canada and the US, selected for specific language impairment were genotyped at loci where such common genes are likely to reside. Significant evidence for linkage was previously observed at chromosome 13q21 in our Canadian sample (HLOD 3.56) and was confirmed in our US sample ( HLOD 2.61). Using the posterior probability of linkage (PPL) to combine evidence for linkage across the two samples yielded a PPL over 92%. Two additional loci on chromosome 2 and 7 showed weak evidence for linkage. However, a marker in the cystic fibrosis transmembrane conductance regulator (7q31) showed evidence for association to SLI, confirming results from another group (O'Brien et al. 2003). Our results indicate that using samples selected for components of the autism phenotype may be a useful adjunct to autism genetics. Copyright (C) 2004 S. Karger AG, Basel.
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