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Tests for linkage and association in nuclear families.

Abstract：

:The transmission/disequilibrium test (TDT) originally was introduced to test for linkage between a genetic marker and a disease-susceptibility locus, in the presence of association. Recently, the TDT has been used to test for association in the presence of linkage. The motivation for this is that linkage analysis typically identifies large candidate regions, and further refinement is necessary before a search for the disease gene is begun, on the molecular level. Evidence of association and linkage may indicate which markers in the region are closest to a disease locus. As a test of linkage, transmissions from heterozygous parents to all of their affected children can be included in the TDT; however, the TDT is a valid chi2 test of association only if transmissions to unrelated affected children are used in the analysis. If the sample contains independent nuclear families with multiple affected children, then one procedure that has been used to test for association is to select randomly a single affected child from each sibship and to apply the TDT to those data. As an alternative, we propose two statistics that use data from all of the affected children. The statistics give valid chi2 tests of the null hypothesis of no association or no linkage and generally are more powerful than the TDT with a single, randomly chosen, affected child from each family.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Martin ER,Kaplan NL,Weir BS

doi

10.1086/514860

subject

Has Abstract

pub_date

1997-08-01 00:00:00

pages

439-48

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)64071-3

journal_volume

61

pub_type

杂志文章

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