Faucett C, Gauderman W J, Thomas D, Ziogas A, Sobel E
Department of Preventive Medicine, University of Southern California, Los Angeles 90033.
Genet Epidemiol. 1993;10(6):489-94. doi: 10.1002/gepi.1370100627.
We illustrate the use of Gibbs sampling for combined segregation and linkage analysis using late-onset families in the Duke Alzheimer's disease (AD) data set. The disease penetrance model is flexible, incorporating variable age of disease onset, sporadic cases, and unknown or uncertain ages of AD onset. Model parameters (including allele frequencies) and lod scores are estimated, and a correction for ascertainment is made. Little indication of linkage was observed for any chromosome 19 or 21 marker. However, there was strong evidence for the existence of an AD major gene under an autosomal dominant/sporadic model.
我们展示了使用吉布斯采样法对杜克大学阿尔茨海默病（AD）数据集中的晚发型家系进行联合分离分析和连锁分析。疾病外显率模型具有灵活性，纳入了疾病发病年龄可变、散发病例以及AD发病年龄未知或不确定的情况。估计了模型参数（包括等位基因频率）和对数优势分数，并进行了确诊校正。在任何19号或21号染色体标记上均未观察到明显的连锁迹象。然而，有强有力的证据表明在常染色体显性/散发模型下存在一个AD主基因。
