Tiemo Grimm, Department of Medical Genetics, University of Würzburg, Germany
Bertram Müller‐Myhsok, Max‐Planck‐Institute of Psychiatry, Munich, Germany
Published online: July 2006
DOI: 10.1038/npg.els.0005433
Risk calculation using Bayes' theorem can be carried out where a condition or disease is controlled by Mendelian inheritance. Choice of the appropriate genetic model is important for correct results.
Keywords: risk calculation; Bayes' theorem; Mendelian inheritance; genetic model, linked markers, penetrance, risk function
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Figure 1. X-linked recessive inheritance. Doris is asking for an assessment of her risk of being a DMD carrier.
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Figure 2. Autosomal inheritance with incomplete penetrance. Caesar and Doris are asking for an assessment of the risk of having an affected child.
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Figure 3. Risk of being affected, for a child of the healthy offspring of an affected person with an autosomal dominant trait with incomplete penetrance.
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Figure 4. Autosomal dominant inheritance with late onset. Ernst is asking for an assessment of his risk of being a heterozygote.
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Figure 5. Autosomal recessive inheritance. Doris, the sister of an affected brother (Caesar), is asking for an assessment of her risk of having an affected child.
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| References | |
| Grimm T (1984) Genetic counseling in Becker type X-linked muscular dystrophy. I. Theoretical considerations. American Journal of Medical Genetics 18: 713–718. | |
| Grimm T, Meng G, Liechti-Gallati S, et al. (1994) On the origin of deletions and point mutations in Duchenne muscular dystrophy (DMD): most deletions arise in oogenesis and most ‘point mutations’ are due to events in spermatogenesis. Journal of Medical Genetics 31: 183–186. | |
| Grimm T, Müller B, Müller CR and Janka M (1990) Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy. Journal of Medical Genetics 27: 683–687. | |
| Haldane JBS (1935) The rate of spontaneous mutations of a human gene. Journal of Genetics 31: 317–326. | |
| Hardy GH (1908) Mendelian proportions in a mixed population. Science 28: 49–50. | |
| Keller H, Emery AEH, Spiegler AWJ, et al. (1996) Age effects on serum creatine kinase (SCK) levels in obligate carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and its implication on genetic counselling. Acta Cardiomyologica 8: 27–34. | |
| Lathrop GM and Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. American Journal of Human Genetics 36: 460–465. | |
| Newcombe RG (1981) A life table for onset of Huntington's chorea. Annals of Human Genetics 45: 375–385. | |
| Pauli RM and Motulsky AG (1981) Risk counselling in autosomal dominant disorders with undetermined penetrance. Journal of Medical Genetics 18: 340–343. | |
| Weinberg W (1908) Über den Nachweis der Vererbung beim Menschen. Jahreshefte des Vereins für vaterländische Naturkunde in Württemberg 64: 368–382. | |
| Further Reading | |
| book Bridge PJ (1994) The Calculation of Genetic Risks. Baltimore, MD: Johns Hopkins University Press. | |
| book Young ID (1991) Introdution to Risk Calculation in Genetic Counselling. Oxford, UK: Oxford University Press. | |
| Web Links | |
| ePath Dystrophin (muscular dystrophy, Duchenne and Becker types) (DMD); LocusID: 1756. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1756 | |
| ePath Huntington disease (HD); LocusID: 3064. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3064 | |
| ePath Dystrophin (muscular dystrophy, Duchenne and Becker types) (DMD); MIM number: 310200. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?310200 | |
| ePath Huntington disease (HD); MIM number: 143100. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?143100 | |
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