Farrer L A, Stice L
Department of Neurology, Boston University School of Medicine, MA 02118.
Genet Epidemiol. 1993;10(6):425-30. doi: 10.1002/gepi.1370100616.
Linkage data from 92 FAD kindreds were analyzed by lod score analysis under various assumptions of disease penetrance, marker allele frequencies, and heterogeneity. Multilocus linkage analysis supports the existence of a gene in 40%-65% of families with predominantly late-onset illness (after age 65) on chromosome 19 between D19S13 and ATP1A3. Evidence for a second FAD gene on chromosome 21 is weaker and stems primarily from a few families with early-onset disease. Our findings also indicate that choice of the genetic model for FAD and marker allele frequencies may be crucial to conclusions about linkage and heterogeneity.
在疾病外显率、标记等位基因频率和遗传异质性的各种假设下，通过对数优势比分（lod score）分析对来自92个家族性阿尔茨海默病（FAD）家系的连锁数据进行了分析。多位点连锁分析支持在19号染色体上D19S13和ATP1A3之间，40%-65%主要为晚发性疾病（65岁以后发病）的家系中存在一个基因。21号染色体上第二个FAD基因的证据较弱，主要来自少数早发性疾病的家系。我们的研究结果还表明，FAD遗传模型和标记等位基因频率的选择对于连锁和遗传异质性的结论可能至关重要。
