Boehnke M
Am J Hum Genet. 1986 Oct;39(4):513-27.
I describe a simulation method to estimate the power to detect linkage given a set of pedigrees of known structure and for which family history data may be available. This method can be applied to autosomal and X-linked dominant diseases; depending on the pedigrees under consideration, it will often be applicable for autosomal and X-linked recessive diseases. This power calculation can most usefully be undertaken after family history data are gathered, but prior to examination and testing of pedigree members to obtain marker information. Of key importance, the power calculation is straightforward to carry out and not too time-consuming; it is practical even on a microcomputer. The result of the power calculation is an objective answer to the question: Will my families be sufficient to demonstrate linkage?
我描述了一种模拟方法,用于在给定一组已知结构的家系且可能有家系病史数据的情况下,估计检测连锁的效能。该方法可应用于常染色体显性疾病和X连锁显性疾病;根据所考虑的家系情况,它通常也适用于常染色体隐性疾病和X连锁隐性疾病。这种效能计算最适合在收集家系病史数据之后,但在对家系成员进行检查和检测以获取标记信息之前进行。至关重要的是,效能计算易于执行且不太耗时;即使在微型计算机上也切实可行。效能计算的结果是对以下问题的客观回答:我的家系足以证明连锁关系吗?