Cox N J, Kramer P L, Kidd K K
Genet Epidemiol. 1984;1(3):245-53. doi: 10.1002/gepi.1370010304.
Although stuttering is known to be a familial disorder, no clear evidence regarding precise mode of transmission has arisen from previous research. In this report segregation analysis is applied to data on 386 stuttering probands and their first-degree relatives in an effort to discriminate among possible genetic models for the transmission of stuttering. Two different segregation analysis programs, PAP and POINTER, gave comparable results with respect to both hypothesis testing and parameter estimation. Specifically, the transmission of stuttering observed in these families cannot be adequately explained by a Mendelian major locus. The hypothesis of no polygenic component in the transmission of stuttering can, however, be rejected. Existence in these data of potential heterogeneity and possible violations of assumptions concerning ascertainment are considered in interpreting the results.
尽管口吃被认为是一种家族性疾病，但以往的研究并未得出关于确切遗传模式的明确证据。在本报告中，我们对386名口吃先证者及其一级亲属的数据进行了分离分析，以区分口吃遗传的可能遗传模型。两个不同的分离分析程序PAP和POINTER在假设检验和参数估计方面都给出了可比的结果。具体而言，这些家族中观察到的口吃遗传不能用孟德尔主基因座来充分解释。然而，口吃遗传中不存在多基因成分的假设可以被拒绝。在解释结果时，我们考虑了这些数据中潜在的异质性以及可能违反有关确定的假设的情况。
