Beaty T H, Boughman J A, Yang P, Astemborski J A, Suzuki J B
Am J Hum Genet. 1987 May;40(5):443-52.
Data from 28 families ascertained through a proband with juvenile periodontitis were used to test a series of Mendelian models of inheritance that included both autosomal and X-linked transmission. There was strong evidence of familial aggregation of this progressive dental disease, and the best-fitting model was an autosomal recessive model. Because of the rather limited age range for expression of the disease in this situation, simulations were done, in a model-choice analysis using samples of this size, to assess the chance of mistaking an autosomal dominant disease (with masking of the affected phenotype outside a specified age range) for an autosomal recessive disease. While the rate of Type II error was fairly high (40%) when competing models in these simulations were compared, these data suggest that it is reasonable to infer that juvenile periodontitis is an autosomal recessive disorder.
通过患有青少年牙周炎的先证者确定的28个家庭的数据，用于测试一系列孟德尔遗传模型，包括常染色体和X连锁遗传。有强有力的证据表明这种进行性牙科疾病存在家族聚集性，最合适的模型是常染色体隐性模型。由于在这种情况下疾病表达的年龄范围相当有限，因此在使用这种规模样本的模型选择分析中进行了模拟，以评估将常染色体显性疾病（在特定年龄范围外受影响表型被掩盖）误认为常染色体隐性疾病的可能性。虽然在这些模拟中比较竞争模型时II型错误率相当高（40%），但这些数据表明推断青少年牙周炎是一种常染色体隐性疾病是合理的。
