Determining informativity of marker typing for genetic counseling in a pedigree (original) (raw)

Summary

For the situation of a Mendelian disease linked to a genetic marker, a new method is described that allows evaluating for genetic counseling the information potentially available from the linked marker before the marker data are actually obtained, that is, prior to drawing blood for marker typing. For a consultand in a family pedigree, the method determines the risk distribution (small families) or an approximation to it (larger families) and calculates the probability that the risk will deviate beyond certain limits from its a priori value, which exists without marker data, for example, that the risk will be smaller than 0.10 or larger than 0.90. The method was applied here to a pedigree of 15 individuals for which analytical calculations would be difficult to carry out.

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References

• Boehnke M (1986) Estimating the power of a proposed linkage study: a practical computer simulation approach. Am J Hum Genet 39:513–527
  Google Scholar
• Conneally PM, Wallace MR, Gusella JF, Wexler NS (1984) Huntington disease: estimation of heterozygote status using linked genetic markers. Genet Epidemiol 1:81–88
  Google Scholar
• Lange K (1986) Approximate confidence intervals for risk prediction in genetic counseling. Am J Hum Genet 38:681–687
  Google Scholar
• Lathrop GM, Lalouel J-M (1988) Efficient computations in multilocus linkage analyses. Am J Hum Genet 42:498–505
  Google Scholar

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Authors and Affiliations

1. Department of Psychiatry, Columbia University, 722 West 168th Street, 10032, New York, NY, USA
   Lodewijk Sandkuyl & Jurg Ott

Authors

1. Lodewijk Sandkuyl
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2. Jurg Ott
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Sandkuyl, L., Ott, J. Determining informativity of marker typing for genetic counseling in a pedigree.Hum Genet 82, 159–162 (1989). https://doi.org/10.1007/BF00284050

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• Received: 16 February 1988
• Revised: 18 November 1988
• Issue Date: May 1989
• DOI: https://doi.org/10.1007/BF00284050

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