Jursić A, Skrinjarić I
Acta Stomatol Croat. 1988;22(4):261-9.
The aim of this study was to establish the mode of inheritance of hypodontia based on family data, and by means of segregational analysis to test whether this anomaly follows the expected ratio of segregation for the expected mode of inheritance. The research has been performed by analysing pedigrees of 35 families with hypodontia. Genealogical analyses suggest that hypodontia follows an autosomal dominant (AD) mode of inheritance in 21 families. The sample has been obtained by single incomplete ascertainment. The following methods have been applied for segregational analysis: Weinberger's proband method, Davie's method, Fisher's method, Robert's method, and finally Penrose's of a "relative frequency" method. Weinberger's method showed the value of 0.27 (27%) of the segregation of genes for hypodontia of the chosen sample and in case of Davie's method 0.28 (28.57%). Fisher's "sib" method gave the same results as Davie's method (28.57%). Roberts's formula showed that the value of X2 was 1.76, what means that there is no significant deviation from the expected 1:1 ratio. The results obtained are in favor of the autosomal dominant mode of inheritance. Penrose's method of a "relative frequency", suitable for differencing monogenic from polygenic inheritance, also showed autosomal dominant mode of inheritance of hypodontia in the analyzed sample.
本研究的目的是基于家族数据确定缺牙症的遗传模式，并通过分离分析来检验这种异常是否符合预期遗传模式的预期分离比例。该研究通过分析35个患有缺牙症的家庭的系谱进行。系谱分析表明，21个家庭中的缺牙症遵循常染色体显性（AD）遗传模式。样本是通过单一不完全确诊获得的。以下方法已应用于分离分析：温伯格先证者法、戴维法、费舍尔法、罗伯茨法，最后是彭罗斯的“相对频率”法。温伯格法显示所选样本中缺牙症基因的分离值为0.27（27%），戴维法的结果为0.28（28.57%）。费舍尔的“同胞”法给出了与戴维法相同的结果（28.57%）。罗伯茨公式显示X2值为1.76，这意味着与预期的1:1比例没有显著偏差。所得结果支持常染色体显性遗传模式。彭罗斯的“相对频率”法适用于区分单基因遗传和多基因遗传，在分析样本中也显示出缺牙症的常染色体显性遗传模式。
