INSERM Unité 535, B.P. 1000, 94817 Villejuif Cedex, France.
BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S87. doi: 10.1186/1471-2156-6-S1-S87.
Genetic Analysis Workshop 14 simulated data have been analyzed with MASC(marker association segregation chi-squares) in which we implemented a bootstrap procedure to provide the variation intervals of parameter estimates. We model here the effect of a genetic factor, S, for Kofendrerd Personality Disorder in the region of the marker C03R0281 for the Aipotu population. The goodness of fit of several genetic models with two alleles for one locus has been tested. The data are not compatible with a direct effect of a single-nucleotide polymorphism (SNP) (SNP 16, 17, 18, 19 of pack 153) in the region. Therefore, we can conclude that the functional polymorphism has not been typed and is in linkage disequilibrium with the four studied SNPs. We obtained very large variation intervals both of the disease allele frequency and the degree of dominance. The uncertainty of the model parameters can be explained first, by the method used, which models marginal effects when the disease is due to complex interactions, second, by the presence of different sub-criteria used for the diagnosis that are not determined by S in the same way, and third, by the fact that the segregation of the disease in the families was not taken into account. However, we could not find any model that could explain the familial segregation of the trait, namely the higher proportion of affected parents than affected sibs.
遗传分析研讨会 14 模拟数据已使用 MASC（标记关联分离卡方）进行分析，其中我们实施了自举程序以提供参数估计的变化区间。我们在这里对 Aipotu 人群中标记 C03R0281 区域的 Kofendrerd 人格障碍的遗传因素 S 的影响进行建模。已经测试了具有两个等位基因的一个基因座的几种遗传模型的拟合优度。数据与该区域中单核苷酸多态性（SNP）（包 153 中的 SNP16、17、18、19）的直接效应不兼容。因此，我们可以得出结论，功能多态性尚未被分型，并且与研究的四个 SNP 处于连锁不平衡状态。我们获得了疾病等位基因频率和显性程度的非常大的变化区间。模型参数的不确定性可以首先通过用于建模疾病是由于复杂相互作用的边缘效应的方法来解释，其次，通过用于诊断的不同子标准的存在来解释，这些标准不能以相同的方式由 S 确定，第三，由于未考虑疾病在家庭中的分离。然而，我们无法找到任何可以解释该性状的家族分离的模型，即受影响父母的比例高于受影响的同胞。
