Thibaut F, Martinez M, Petit M, Jay M, Campion D
SHU de Psychiatrie, Centre Hospitalier du Rouvray, Sotteville lès Rouen, France.
Psychiatry Res. 1995 Nov 29;59(1-2):25-33. doi: 10.1016/0165-1781(95)02778-5.
The term 'anticipation' is used to describe the increase in disease severity or the decrease in age of onset in succeeding generations within families. This phenomenon has been related to expansion of trinucleotide repeat DNA sequences in some genetic illnesses. We examined age of onset among two generations in familial schizophrenia. Twenty-six unilineal pedigrees previously ascertained for linkage studies were used. We defined the older generation as G1 and the younger generation as G2. Cumulative survival analysis for intergenerational pairwise comparisons in groups G1 and G2 showed a significantly earlier age of onset in G2 (10 years earlier). Additional analyses, which took into account some biases such as the censoring effect of age at interview and preferential ascertainment of late-onset parents, did not modify the results. No evidence for genomic imprinting was found in our sample. We conclude that anticipation occurs in our sample of familial schizophrenia.
术语“早现”用于描述家族中后代疾病严重程度增加或发病年龄降低的现象。这种现象与某些遗传性疾病中三核苷酸重复DNA序列的扩增有关。我们研究了家族性精神分裂症两代人的发病年龄。使用了先前为连锁研究确定的26个单系谱系。我们将老一代定义为G1，年轻一代定义为G2。对G1和G2组进行代际两两比较的累积生存分析显示，G2组的发病年龄明显更早（早10年）。考虑到一些偏差（如访谈时年龄的审查效应和晚发父母的优先确定）的额外分析并未改变结果。在我们的样本中未发现基因组印记的证据。我们得出结论，在我们的家族性精神分裂症样本中存在早现现象。
