Myers R H, Cupples L A, Schoenfeld M, D'Agostino R B, Terrin N C, Goldmakher N, Wolf P A
Am J Hum Genet. 1985 May;37(3):511-23.
Analyses of father-offspring and mother-offspring similarity in onset age suggest that nuclear genes account for a significant portion of the modification of onset age in Huntington disease. The effects of non-nuclear modifiers are supported by the finding that the offspring of affected women have significantly older mean ages of onset than offspring of affected men irrespective of the onset age in the parent. The absence of increased father-daughter similarity indicates that modification is not X-linked. The absence of reproductive advantage for late-onset individuals and the absence of a multigenerational maternal-lineage effect suggest that the modifying effect of the sex of the affected parent occurs in a single parental generation. Offspring of affected women with onset between ages 35 and 49 had a significantly older mean onset age than their mothers. This suggests that a protective effect may be conferred upon the offspring of affected women.
对父子以及母子发病年龄相似性的分析表明，核基因在亨廷顿舞蹈病发病年龄的改变中占很大一部分。非核修饰因子的作用得到了以下发现的支持：受影响女性的后代发病平均年龄明显高于受影响男性的后代，而与父母的发病年龄无关。父女相似性未增加表明这种修饰不是X连锁的。晚发个体不存在生殖优势以及不存在多代母系效应表明，受影响父母的性别修饰作用发生在单个亲代世代中。发病年龄在35至49岁之间的受影响女性的后代发病平均年龄明显高于其母亲。这表明受影响女性的后代可能具有保护作用。
