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Expected behavior of conditional linkage disequilibrium.

N Kaplan1, B S Weir

  • 1Division of Biometry and Risk Assessment, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709.

American Journal of Human Genetics
|August 1, 1992
PubMed
Summary
This summary is machine-generated.

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This study introduces a modified association measure for mapping rare disease genes using restriction fragment length polymorphisms (RFLPs). The modified measure shows high variability, cautioning against its direct use for gene localization.

Area of Science:

  • Human Genetics
  • Population Genetics
  • Medical Genomics

Background:

  • Restriction Fragment Length Polymorphisms (RFLPs) are abundant in the human genome, aiding in disease gene mapping.
  • Population association studies between disease and marker loci are a proposed method for gene mapping.

Purpose of the Study:

  • To present theoretical predictions for a modified association measure suitable for rare diseases.
  • To evaluate the reliability of this modified measure for locating disease genes.

Main Methods:

  • Developed theoretical predictions for the mean and variance of a modified association measure.
  • Assumed a disease gene maintained at a constant low frequency in the population.
  • Calculated the modified association measure using published cystic fibrosis data.

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Main Results:

  • The modified association measure exhibits a large coefficient of variation.
  • Increasing sample size does not sufficiently reduce the coefficient of variation.
  • Caution is advised when using this measure for disease gene localization.

Conclusions:

  • The modified association measure's high variability limits its utility in pinpointing disease genes.
  • Further refinement or alternative methods may be necessary for accurate rare disease gene mapping.