Kádasi L
Genetics Laboratory, Slovak Academy of Sciences, Bratislava.
Hum Hered. 1989;39(2):67-74. doi: 10.1159/000153837.
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.
标记基因座与疾病基因座之间的重组会带来诊断错误的风险，在通过连锁DNA多态性或其他标记对单基因疾病进行间接诊断时，必须考虑这一风险。本文提出了一种方法，可改进迄今使用的对该误差大小的估计。原则上，它利用了这样一个事实，即标记基因座与疾病基因座之间的重组不一定会增加错误率；如果在诊断过程中发生两次或多次重组，最终诊断可能是正确的。
