Nylander P O, Engström C, Chotai J, Wahlström J, Adolfsson R
Department of Psychiatry, University of Umeå, Sweden.
J Med Genet. 1994 Sep;31(9):686-9. doi: 10.1136/jmg.31.9.686.
Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity or decrease in age at onset or both in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in different disorders. We have studied differences of age at onset and disease severity between two generations in 14 families with unilinear inheritance of bipolar affective disorder (BPAD). There was a significant difference in age at onset (p < 0.008), in episodes per year with (p < 0.006) and without (p < 0.03) lithium treatment, and in total episodes per year (p < 0.002) between generations I and II. Furthermore, there was a highly significant correlation (p < 0.001) in age at onset between generations I and II. No evidence for specific paternal or maternal inheritance was found. We found evidence of anticipation and could rule out ascertainment bias or some other artefact. Anticipation is thus an inheritance pattern in BPAD which suggests that the expansion of trinucleotide repeat sequences is a possible mode of inheritance in BPAD.
遗传早现描述的是系谱中的一种遗传模式，即疾病严重程度增加或发病年龄降低，或在连续几代中两者兼有。最近研究表明，遗传早现现象与不同疾病中三核苷酸重复序列的扩增有关。我们研究了14个双相情感障碍（BPAD）呈单系遗传的家族中两代人之间的发病年龄和疾病严重程度差异。第一代和第二代在发病年龄（p < 0.008）、接受锂治疗时每年的发作次数（p < 0.006）和未接受锂治疗时每年的发作次数（p < 0.03）以及每年的总发作次数（p < 0.002）方面存在显著差异。此外，第一代和第二代在发病年龄上存在高度显著的相关性（p < 0.001）。未发现特定父系或母系遗传的证据。我们发现了遗传早现的证据，并且可以排除确诊偏倚或其他人为因素。因此，遗传早现是BPAD中的一种遗传模式，这表明三核苷酸重复序列的扩增可能是BPAD的一种遗传方式。
