SCHIZOPHRENIA AND SEX-CHROMOSOME ANOMALIES
SCHIZOPHRENIA AND SEX-CHROMOSOME ANOMALIES
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DOI：
10.1093/schbul/20.3.495
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发表时间：
1994-01-01
影响因子：
6.6
通讯作者：
CROW, TJ
中科院分区：
文献类型：
--
作者：
DELISI, LE;FRIEDRICH, U;CROW, TJ
许多作者报告说，精神分裂症患者群体中存在明显过量的性染色体非整倍体（XXY、XXX，可能还有 XYY）。这些报告很少受到关注，因为精神病的传播被认为是常染色体遗传，与性别无关，并且仅通过巴尔体估计检测额外的 X 染色体并不是一个可靠的程序。在本文中，我们回顾了确定整个样本的完整核型或通过完整的细胞遗传学分析检查个体中巴尔小体的存在的研究。我们还添加了两项我们自己的研究（前类型）——瑞典医院队列和美国多重精神分裂症家庭样本。这些数据综合起来表明，性染色体非整倍体 XXX 和 XXY 在精神分裂症患者群体中增加，而接受调查以确定是否与 XYY 也存在关联的受试者太少。尽管如此，我们得出的结论是，这与性染色体上影响精神分裂症发展的基因是一致的。如果性染色体基因座是假常染色体（即在交换区域内）或 X-Y 同源（即以相似的形式存在于 X 和 Y 染色体的非重组区域中），则性染色体位点与常染色体传播模式兼容。
An apparent excess of sex chromosome aneuploidies (XXY, XXX, and possibly XYY) has been reported in populations of patients with schizophrenia by a number of authors. These reports have received little attention because transmission of psychosis is regarded as autosomal and not sex linked, and the detection of extra X chromosomes by Barr body estimation alone is not a reliable procedure. In this article, we review studies in which either complete karyotypes were determined for the whole sample or in which the presence of a Barr body in an individual was checked by full cytogenetic analysis. We also add two studies (of the former type) of our own-on a Swedish hospital cohort and a United States multiplex-schizophrenia family sample. These data, taken together, suggest that the sex chromosome aneuploidies, XXX and XXY, are increased in populations of patients with schizophrenia, whereas too few subjects have been surveyed to determine whether an association also exists with XYY. Nevertheless, we conclude that this is consistent with a gene on the sex chromosomes having influence on the development of schizophrenia. A sex chromosome locus is compatible with an autosomal pattern of transmission if the gene is either pseudoautosomal (i.e., within the exchange region) or X-Y homologous (i.e., present in similar form in the nonrecombining regions of both X and Y chromosomes).