Estimating the error rate in DNA diagnosis with linked markers.
Recombination between the marker locus and disease locus introduces a risk of diagnostic error that must be considered when performing indirect diagnosis of monogenic disorders by means of a linked DNA polymorphism or another marker. A method is presented which improves the hitherto used estimates of the magnitude of this error. Principally, it makes use of the fact that recombination between marker and disease locus needs not necessarily increase the error rate; if it occurs twice or several times during the diagnostic process, the final diagnosis may be correct.
Kádasi
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Genetics Laboratory, Slovak Academy of Sciences, Bratislava.
D004247:DNA / Q000235:genetics*; D003951:Diagnostic Errors; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D012306:Risk; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA