Gershon E S, Goldin L R
Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda.
Am J Hum Genet. 1994 Apr;54(4):715-8.
Independent replication of linkage in previously studied pedigrees is desirable when genetic heterogeneity is suspected or when the illness is very rare. When the likelihood of the new data in this type of replication study is computed as conditional on the previously reported linkage results, it can be considered independent. We describe a simulation method using the SLINK program in which the initial data are fixed and newly genotyped individuals are simulated under theta = .01 and theta = .50. These give appropriate lod score criteria for rejection and acceptance of linkage in the follow-up study, which take into account the original marker genotypes in the data. An estimate of the power to detect linkage in the follow-up data is also generated.
当怀疑存在遗传异质性或疾病非常罕见时,在先前研究的家系中对连锁进行独立复制是很有必要的。当在这类复制研究中计算新数据的似然性时,若以先前报告的连锁结果为条件,则可认为是独立的。我们描述了一种使用SLINK程序的模拟方法,其中初始数据是固定的,并且在θ = 0.01和θ = 0.50的条件下模拟新基因分型的个体。这些给出了在后续研究中用于拒绝和接受连锁的适当对数优势比分标准,该标准考虑了数据中的原始标记基因型。同时还生成了在后续数据中检测连锁的功效估计值。