Linked Life Data

8554057

Source:http://linkedlifedata.com/resource/pubmed/id/8554057

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1996-2-21
pubmed:abstractText
Certain genetic disorders are rare in the general population but more common in individuals with specific trisomies, which suggests that the genes involved in the etiology of these disorders may be located on the trisomic chromosome. As with all aneuploid syndromes, however, a considerable degree of variation exists within each phenotype so that any given trait is present only among a subset of the trisomic population. We have previously presented a simple gene-dosage model to explain this phenotypic variation and developed a strategy to map genes for such traits. The mapping strategy does not depend on the simple model but works in theory under any model that predicts that affected individuals have an increased likelihood of disomic homozygosity at the trait locus. This paper explores the robustness of our mapping method by investigating what kinds of models give an expected increase in disomic homozygosity. We describe a number of basic statistical models for trisomic phenotypes. Some of these are logical extensions of standard models for disomic phenotypes, and some are more specific to trisomy. Where possible, we discuss genetic mechanisms applicable to each model. We investigate which models and which parameter values give an expected increase in disomic homozygosity in individuals with the trait. Finally, we determine the sample sizes required to identify the increased disomic homozygosity under each model. Most of the models we explore yield detectable increases in disomic homozygosity for some reasonable range of parameter values, usually corresponding to smaller trait frequencies. It therefore appears that our mapping method should be effective for a wide variety of moderately infrequent traits, even though the exact mode of inheritance is unlikely to be known.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-14073798, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-1692308, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-2301392, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-4842773, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-5106369, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-5149961, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-6185454, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-6229183, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-686687, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-7192492, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-7498758, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-7717402, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-7847384, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-7987295, http://linkedlifedata.com/resource/pubmed/commentcorrection/8554057-8116616
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
58
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
201-12
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Statistical models for trisomic phenotypes.
pubmed:affiliation
Department of Genetics, Emory University, Atlanta, GA 30322, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S.