Source:http://linkedlifedata.com/resource/pubmed/id/11811142
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
2002-1-25
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| pubmed:abstractText |
Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions.
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| pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/K02 MH01432,
http://linkedlifedata.com/resource/pubmed/grant/K02 MH01568,
http://linkedlifedata.com/resource/pubmed/grant/K21 MH01338,
http://linkedlifedata.com/resource/pubmed/grant/R01 MH52841,
http://linkedlifedata.com/resource/pubmed/grant/R10 MH55135
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| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0148-7299
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
8
|
| pubmed:volume |
105
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
609-15
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:11811142-Adolescent,
pubmed-meshheading:11811142-Adult,
pubmed-meshheading:11811142-Autistic Disorder,
pubmed-meshheading:11811142-Child,
pubmed-meshheading:11811142-Child, Preschool,
pubmed-meshheading:11811142-Chromosome Mapping,
pubmed-meshheading:11811142-Chromosomes, Human, Pair 13,
pubmed-meshheading:11811142-Chromosomes, Human, Pair 7,
pubmed-meshheading:11811142-Family,
pubmed-meshheading:11811142-Family Health,
pubmed-meshheading:11811142-Female,
pubmed-meshheading:11811142-Gene Frequency,
pubmed-meshheading:11811142-Genes, Recessive,
pubmed-meshheading:11811142-Genetic Linkage,
pubmed-meshheading:11811142-Genetic Predisposition to Disease,
pubmed-meshheading:11811142-Genetic Testing,
pubmed-meshheading:11811142-Genome, Human,
pubmed-meshheading:11811142-Genotype,
pubmed-meshheading:11811142-Humans,
pubmed-meshheading:11811142-Intelligence Tests,
pubmed-meshheading:11811142-Lod Score,
pubmed-meshheading:11811142-Male,
pubmed-meshheading:11811142-Microsatellite Repeats,
pubmed-meshheading:11811142-Models, Genetic
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| pubmed:year |
2001
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| pubmed:articleTitle |
An autosomal genomic screen for autism.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Corrected and Republished Article
|