Hoh J, Heitjan D F, Mérette C, Ott J
Division of Biostatistics, Columbia University, New York, NY, USA.
Hum Hered. 2001;51(1-2):23-6. doi: 10.1159/000022955.
Many human diseases show anticipation; that is, disease occurs earlier (or with greater severity) in successive generations. In a computer simulation, we assessed the degree of anticipation that one would expect to see in two-generation breast cancer families. Under reasonable assumed distributions for age at cancer onset, number of children, and mortality, we find a consistent earlier mean age at diagnosis in daughters than in mothers, but the same mean age at diagnosis in affected aunts and nieces. We compare these results with published pedigree data for familial breast cancer that show substantial anticipation in affected daughters compared to their mothers. We find that at least some anticipation is expected in human disease families even when the disease is stable and families are ascertained without obvious sampling bias. We further demonstrate that such anticipation is reduced when comparing affected children to the parents' affected siblings.
许多人类疾病表现出遗传早现现象；也就是说，疾病在连续几代人中发病更早（或病情更严重）。在一项计算机模拟中，我们评估了在两代乳腺癌家族中预期会出现的遗传早现程度。在对癌症发病年龄、子女数量和死亡率进行合理的假设分布情况下，我们发现女儿的平均诊断年龄比母亲早且具有一致性，但患病姑姑和侄女的平均诊断年龄相同。我们将这些结果与已发表的家族性乳腺癌系谱数据进行比较，这些数据显示患病女儿与其母亲相比存在显著的遗传早现现象。我们发现，即使疾病是稳定的且家族是在没有明显抽样偏差的情况下确定的，人类疾病家族中至少也会出现一些遗传早现现象。我们进一步证明，当将患病子女与其父母的患病兄弟姐妹进行比较时，这种遗传早现现象会减少。
