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对谢尔曼等人所著《系谱数据中平衡臂间倒位的分离分析》中方法与结果的评论

Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data".

作者信息

Stene J

出版信息

Clin Genet. 1986 Aug;30(2):95-107. doi: 10.1111/j.1399-0004.1986.tb00576.x.

Abstract

The analysis by Sherman et al. (1986), its basis and results have been examined. The analysis relies on general methods, which may give acceptable results under the special conditions considered by the authors, but will usually produce more or less misleading results. The program POINTER (Lalouel & Morton 1981) is shown to be based partly on a chain of irrelevant arguments for the actual context. The so-called "conventional ascertainment rules" (Morton et al. 1983) are shown to produce misleading results in cases where their assumptions are not satisfied. The mean risk for unbalanced offspring is underestimated because of an erroneous ascertainment correction. The segregation frequencies are found to be different in three national samples, contrary to the claim by Sherman et al. Only a small proportion of all information available in the data has been utilized. Alternative and more appropriate models, hypotheses and procedures have been suggested. The frequent use of packages with computer programmes of standard statistical procedures in nonstandard situations with data from collaborative studies in human cytogenetics is discussed.

摘要

谢尔曼等人(1986年)的分析、其依据及结果已得到审视。该分析依赖于通用方法,这些方法在作者所考虑的特殊条件下可能会给出可接受的结果,但通常会或多或少产生误导性结果。程序POINTER(拉卢埃尔和莫顿,1981年)被证明部分基于与实际背景无关的一系列论证。所谓的“传统确定规则”(莫顿等人,1983年)在其假设不满足的情况下会产生误导性结果。由于错误的确定校正,不平衡后代的平均风险被低估。与谢尔曼等人的说法相反,在三个国家样本中发现分离频率不同。数据中所有可用信息只有一小部分得到了利用。已提出了替代的、更合适的模型、假设和程序。讨论了在人类细胞遗传学合作研究的数据的非标准情况下频繁使用带有标准统计程序计算机程序包的情况。

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