Morton L A, Kidd K K
Soc Biol. 1980 Spring;27(1):1-10. doi: 10.1080/19485565.1980.9988398.
Three pedigrees were selected from the literature for their compatibility with the hypothesis of linkage between the X-chromosome marker color blindness and bipolar affective disorder. We compared the results of linkage analyses of these pedigrees when both penetrance function and diagnostic classification were varied. The analyses show that the incorporation of age-of-onset information into a penetrance function significantly increased the evidence for linkage. In addition, assumptions about diagnostic classification affected the lod scores. These results demonstrate the need for careful consideration of diagnostic criteria and variable age-of-onset when pursuing linkage analysis of complex traits.
从文献中选取了三个家系，因其与X染色体标记色盲和双相情感障碍之间的连锁假说相符。我们比较了在改变外显率函数和诊断分类时这些家系的连锁分析结果。分析表明，将发病年龄信息纳入外显率函数显著增加了连锁证据。此外，关于诊断分类的假设影响了对数优势分数。这些结果表明，在进行复杂性状的连锁分析时，需要仔细考虑诊断标准和可变的发病年龄。
