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X染色体研讨会

X-chromosome workshop.

作者信息

Paterson A D

机构信息

Neurogenetics Section, Clarke Institute of Psychiatry, Toronto, Ontario, Canada.

出版信息

Psychiatr Genet. 1998 Summer;8(2):121-6. doi: 10.1097/00041444-199800820-00017.

Abstract

Researchers presented results of ongoing research to the X-chromosome workshop of the Fifth World Congress on Psychiatric Genetics, covering a wide range of disorders: X-linked infantile spasms; a complex phenotype associated with deletions of Xp11; male homosexuality; degree of handedness; bipolar affective disorder; schizophrenia; childhood onset psychosis; and autism. This report summarizes the presentations, as well as reviewing previous studies. The focus of this report is on linkage findings for schizophrenia and bipolar disorder from a number of groups. For schizophrenia, low positive lod scores were obtained for markers DXS991 and DXS993 from two studies, although the sharing of alleles was greatest from brother-brother pairs in one study, and sister-sister in the other. Data from the Irish schizophrenia study was also submitted, with no strong evidence for linkage on the X chromosome. For bipolar disease, following the report of a Finnish family linked to Xq24-q27, the Columbia group reported some positive results for this region from 57 families, however, another group found no evidence for linkage to this region. Of interest, is the clustering of low positive linkage results that point to regions for possible further study.

摘要

研究人员在第五届世界精神遗传学大会的X染色体研讨会上展示了正在进行的研究结果,涉及多种疾病:X连锁婴儿痉挛症;与Xp11缺失相关的复杂表型;男性同性恋;用手习惯程度;双相情感障碍;精神分裂症;儿童期起病的精神病;以及自闭症。本报告总结了这些展示内容,并回顾了以往的研究。本报告的重点是多个研究团队关于精神分裂症和双相情感障碍的连锁分析结果。对于精神分裂症,两项研究中标记DXS991和DXS993的阳性连锁值较低,不过在一项研究中,等位基因共享在兄弟对中最为显著,而在另一项研究中则是姐妹对。爱尔兰精神分裂症研究的数据也被提交,没有强有力的证据表明X染色体存在连锁。对于双相情感障碍,在一个芬兰家族与Xq24 - q27连锁的报告之后,哥伦比亚研究团队报告了来自57个家族的该区域的一些阳性结果,然而,另一个团队没有发现与该区域连锁的证据。有趣的是,低阳性连锁结果集中指向了可能需要进一步研究的区域。

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