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Calculating genetic risk figures using a programmable pocket calculator.

作者信息

Stalder G R

出版信息

Hum Genet. 1979;52(3):337-41. doi: 10.1007/BF00278682.

DOI:10.1007/BF00278682
PMID:535891
Abstract

In autosomal irregular dominant as well as in sex-linked recessive inheritance, heterozygosity probabilities for up to six or eight pedigree members with unknown genotype can easily be calculated using a programmable pocket calculator. The application of the underlying combinatorial programs is explained by means of two relevant examples. Genetic counsellors without a computer at hand are provided with a simple and accurate method for calculating genetic risk figures taking into account pedigree data, incidence and/or mutation rate, reproductive fitness, as well as penetrance or results of heterozygosity tests of the disease in question.

摘要

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本文引用的文献

1
PEDIG--a computer program for calculation of genotype probabilities using phenotype information.PEDIG——一个利用表型信息计算基因型概率的计算机程序。
Clin Genet. 1972;3(6):501-4. doi: 10.1111/j.1399-0004.1972.tb01488.x.
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The rationale of genetic counseling.
J Pediatr. 1968 Jan;72(1):121-30. doi: 10.1016/s0022-3476(68)80415-9.
3
A simple combinatorial method for calculating genetic risks.
Clin Genet. 1975 May-Jun;7(5):361-7. doi: 10.1111/j.1399-0004.1975.tb00343.x.