Chotai J, Engström C, Ekholm B, son Berg M L, Adolfsson R, Nylander P O
Department of Psychiatry, University of Umeå, Sweden.
Psychiatr Genet. 1995 Winter;5(4):181-6. doi: 10.1097/00041444-199524000-00006.
Nineteen parent-offspring pairs obtained from 14 two-generation families with available medical records and diagnosis of schizophrenia were studied to compare the ages of onset of the parent generation with those of the offspring generation. The mean age of onset for the parent generation was 37.3 +/- 6.0 years and for the offspring generation was 20.8 +/- 4.4. The mean difference was thus 16.5 +/- 6.2, suggesting the occurrence of anticipation in schizophrenia (p < 0.001). Although some ascertainment biases (like reduced fertility in early-onset parents or early detection of symptoms in offsprings of affected parents) may partially contribute to the occurrence of anticipation, this study replicates recent reports of anticipation in several neuropsychiatric disorders, some of which have been shown to be associated with unstable expansions of trinucleotide repeats in the genomic DNA.
对从14个有可用医疗记录且已诊断出精神分裂症的两代家庭中获得的19对亲子进行了研究,以比较亲代与子代的发病年龄。亲代的平均发病年龄为37.3±6.0岁,子代的平均发病年龄为20.8±4.4岁。因此,平均差异为16.5±6.2,提示精神分裂症中存在遗传早现现象(p<0.001)。尽管一些确定偏倚(如早发型父母的生育力降低或患病父母子代症状的早期发现)可能部分导致了遗传早现的发生,但本研究重复了近期关于几种神经精神疾病中遗传早现的报道,其中一些疾病已被证明与基因组DNA中三核苷酸重复序列的不稳定扩增有关。