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Titolo:
PHENOCOPIES VERSUS GENETIC-HETEROGENEITY - CAN WE USE PHENOCOPY FREQUENCIES IN LINKAGE ANALYSIS TO COMPENSATE FOR HETEROGENEITY
Autore:
DURNER M; GREENBERG DA; HODGE SE;
Indirizzi:
MT SINAI MED CTR,DEPT PSYCHIAT,BOX 1229,1 GUSTAVE LEVY PL NEW YORK NY10029 MT SINAI MED CTR,DEPT BIOMATH NEW YORK NY 10029 UNIV BONN,CLIN EPILEPTOL D-5300 BONN GERMANY COLUMBIA UNIV,DEPT PSYCHIAT NEW YORK NY 00000 COLUMBIA UNIV,DEPT BIOSTAT NEW YORK NY 00000 COLUMBIA UNIV COLL PHYS & SURG,NEW YORK STATE PSYCHIAT INST NEW YORK NY 10032
Titolo Testata:
Human heredity
fascicolo: 5, volume: 46, anno: 1996,
pagine: 265 - 273
SICI:
0001-5652(1996)46:5<265:PVG-CW>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
SINGLE-LOCUS APPROXIMATIONS; LOD SCORES; REDUCED PENETRANCE; OLIGOGENIC TRAITS; INFERRING MODE; 2-LOCUS MODELS; INHERITANCE; ADEQUACY;
Keywords:
SPORADICS; HETEROGENEITY; MAXIMIZED MAXIMUM LOD SCORE; MOD SCORES; PHENOCOPIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
M. Durner et al., "PHENOCOPIES VERSUS GENETIC-HETEROGENEITY - CAN WE USE PHENOCOPY FREQUENCIES IN LINKAGE ANALYSIS TO COMPENSATE FOR HETEROGENEITY", Human heredity, 46(5), 1996, pp. 265-273

Abstract

In this study we explore whether a phenocopy frequency (defined as a 'penetrance' for nondisease genotypes) can approximate or model genetic heterogeneity in a single-locus analysis. We simulated two types of heterogeneity situations: 'sporadic models', where there are two formsof a disease, one genetic and linked to a marker and the other purelyrandom, and 'genetic heterogeneity models', where the disease is caused by either of two different loci, one linked to the marker and the other unlinked. We analyzed simulated data sets for linkage, assuming asingle-locus analysis with varying phenocopy frequency, in analogy with earlier work on epistatic two-locus models. We found that in the presence of purely random sporadics, there was a difference between assuming any nonzero phenocopy frequency and a zero frequency, but that the actual value of the assumed phenocopy frequency had little effect onthe maximum lod score. In contrast, when both forms of disease are genetic, and are generated under similar genetic parameters, assuming a positive phenocopy frequency will not, in general, compensate for the presence of the unlinked form. However, when the modes of inheritance of the two forms differ, the assumption of a nonzero phenocopy frequency does have an effect, either to increase or decrease the maximum lodscore, depending on the modes of inheritance of the two disease forms. We conclude with practical recommendations for investigators, based on these results.

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Documento generato il 14/07/20 alle ore 06:28:51