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The ENCU scoring system
Author(s) -
Chase Gary A.,
Murphy Edmond A.,
Bolling David R.
Publication year - 1971
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1971.tb00269.x
Subject(s) - penetrance , inheritance (genetic algorithm) , generalization , genetics , phenotype , offspring , genetic counseling , computer science , gene , conditional probability , biology , mathematics , statistics , pregnancy , mathematical analysis
A general rule is derived for calculating the conditional probability of a pedigree given that the consultand is a carrier. The method is designated the ENCU system. It is a generalization to accommodate all unilocal systems of inheritance with arbitrary penetrance operating independently in relatives of the ENSU system previously described (Murphy 1970a). The amount of information provided by the normal phenotypes of a person and his descendants is expressed in units of equivalent genotypically normal offspring (ENCUs). The method is applied to a typical genetic counseling problem, and it is shown that a considerable reduction in the quoted risk is obtained because the ENCU system takes into account the normal phenotypes of potential carriers of an incompletely penetrant gene.