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- Publisher Website: 10.1111/j.1469-1809.1995.tb00751.x
- Scopus: eid_2-s2.0-0028981182
- PMID: 7486838
- WOS: WOS:A1995RM72100006
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Article: An extended transmission/disequilibrium test (TDT) for multi-allele marker loci
Title | An extended transmission/disequilibrium test (TDT) for multi-allele marker loci |
---|---|
Authors | |
Issue Date | 1995 |
Publisher | Blackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG |
Citation | Annals Of Human Genetics, 1995, v. 59 n. 3, p. 323-336 How to Cite? |
Abstract | The transmission/disequilibrium test (TDT) was recently introduced by Spielman et al. as a test for linkage and linkage disequilibrium. The test is based on the unequal probability of transmission of two different marker alleles from parents to affected offspring, when the marker locus and the hypothetical disease locus are linked and are in linkage disequilibrium. The probabilities of marker allele transmission to affected offspring conditional on parental genotype have been derived by Ott for a biallelic marker and a recessive disorder with no phenocopies. Here, we derive the transmission probabilities for a multi-allele marker locus and a generalized single locus disease model in a random sample of affected individuals from a randomly mating population. The form of these transmission probabilities suggests an extension of the TDT to multi-allele marker loci, in which the alternative hypothesis is restricted to take account of the likely pattern of unequal transmission when the recombination fraction is near 0. We show how our extended TDT can be implemented by standard software for logistic regression, although we have also written our own program which is available on request. We have evaluated the approximate power of the test under a range of realistic assumptions, and it appears that the test will often have good power when linkage disequilibrium is strong and if the disease is recessive. |
Persistent Identifier | http://hdl.handle.net/10722/175724 |
ISSN | 2023 Impact Factor: 1.0 2023 SCImago Journal Rankings: 0.609 |
ISI Accession Number ID |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Sham, PC | en_US |
dc.contributor.author | Curtis, D | en_US |
dc.date.accessioned | 2012-11-26T09:00:46Z | - |
dc.date.available | 2012-11-26T09:00:46Z | - |
dc.date.issued | 1995 | en_US |
dc.identifier.citation | Annals Of Human Genetics, 1995, v. 59 n. 3, p. 323-336 | en_US |
dc.identifier.issn | 0003-4800 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/175724 | - |
dc.description.abstract | The transmission/disequilibrium test (TDT) was recently introduced by Spielman et al. as a test for linkage and linkage disequilibrium. The test is based on the unequal probability of transmission of two different marker alleles from parents to affected offspring, when the marker locus and the hypothetical disease locus are linked and are in linkage disequilibrium. The probabilities of marker allele transmission to affected offspring conditional on parental genotype have been derived by Ott for a biallelic marker and a recessive disorder with no phenocopies. Here, we derive the transmission probabilities for a multi-allele marker locus and a generalized single locus disease model in a random sample of affected individuals from a randomly mating population. The form of these transmission probabilities suggests an extension of the TDT to multi-allele marker loci, in which the alternative hypothesis is restricted to take account of the likely pattern of unequal transmission when the recombination fraction is near 0. We show how our extended TDT can be implemented by standard software for logistic regression, although we have also written our own program which is available on request. We have evaluated the approximate power of the test under a range of realistic assumptions, and it appears that the test will often have good power when linkage disequilibrium is strong and if the disease is recessive. | en_US |
dc.language | eng | en_US |
dc.publisher | Blackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG | en_US |
dc.relation.ispartof | Annals of Human Genetics | en_US |
dc.subject.mesh | Alleles | en_US |
dc.subject.mesh | Genetic Markers | en_US |
dc.subject.mesh | Genotype | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Linkage Disequilibrium | en_US |
dc.title | An extended transmission/disequilibrium test (TDT) for multi-allele marker loci | en_US |
dc.type | Article | en_US |
dc.identifier.email | Sham, PC: pcsham@hku.hk | en_US |
dc.identifier.authority | Sham, PC=rp00459 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1111/j.1469-1809.1995.tb00751.x | - |
dc.identifier.pmid | 7486838 | - |
dc.identifier.scopus | eid_2-s2.0-0028981182 | en_US |
dc.identifier.volume | 59 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.spage | 323 | en_US |
dc.identifier.epage | 336 | en_US |
dc.identifier.isi | WOS:A1995RM72100006 | - |
dc.publisher.place | United Kingdom | en_US |
dc.identifier.scopusauthorid | Sham, PC=34573429300 | en_US |
dc.identifier.scopusauthorid | Curtis, D=14633020700 | en_US |
dc.identifier.issnl | 0003-4800 | - |