期刊
HUMAN HEREDITY
卷 60, 期 4, 页码 220-226出版社
KARGER
DOI: 10.1159/000090546
关键词
autism; linkage; single nucleotide polymorphisms
资金
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [U19HD035476] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [M01RR000064] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R21GM070710] Funding Source: NIH RePORTER
- NCRR NIH HHS [M01-RR00064] Funding Source: Medline
- NICHD NIH HHS [5 U19 HD035476] Funding Source: Medline
- NIGMS NIH HHS [R21 GM070710] Funding Source: Medline
- NIMH NIH HHS [R01 MH06359] Funding Source: Medline
Though autism shows strong evidence for genetic etiology, specific genes have not yet been found. We tested for linkage in a candidate region on chromosome 3q25 27 first identified in Finnish autism families [ 1]. The peak in this previous study was at D3S3037 ( 183.9 cM). We tested this region in seven affected family members and 24 of their relatives from a single large extended Utah pedigree of Northern European ancestry. A total of 70 single nucleotide polymorphisms ( SNPs) were analyzed from 165 to 204 cM. The maximum NPL-all nonparametric score using SimWalk2snp was 3.53 ( empirical p value = 0.0003) at 185.2 cM ( SNP rs1402229), close to the Finnish peak. A secondary analysis using MCLINK supported this result, with a maximum of 3.92 at 184.6 cM ( SNP rs1362645). We tested for alterations in a candidate gene in this region, the fragile X autosomal homolog, FXR1. No variants likely to contribute to autism were found in the coding sequence, exon-intron boundaries, or the promoter region of this gene.
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