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12号染色体q23 - 24.1区域达里埃病基因附近双相情感障碍的连锁研究。

Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1.

作者信息

Dawson E, Parfitt E, Roberts Q, Daniels J, Lim L, Sham P, Nöthen M, Propping P, Lanczik M, Maier W

机构信息

Department of Neuroscience, Institute of Psychiatry, London, United Kingdom.

出版信息

Am J Med Genet. 1995 Apr 24;60(2):94-102. doi: 10.1002/ajmg.1320600203.

Abstract

We have recently described a family in which there is cosegregation of major affective disorder with Darier's disease and have mapped this autosomal dominant skin disorder to 12q23-q24.1. This has provided an interesting candidate region for genetic studies of bipolar disorder. We have studied the segregation of seven markers spanning the Darier's disease locus in 45 bipolar disorder pedigrees and found modest evidence in support of linkage under heterogeneity for 5 of these markers. Nonparametric analyses were suggestive of linkage with a marker at the gene encoding a secretory form of phospholipase A2. Our sample has relatively low power to detect linkage under heterogeneity and independent researchers should examine markers from this region in further samples of bipolar pedigrees.

摘要

我们最近描述了一个家族,其中重度情感障碍与毛囊角化病共分离,并已将这种常染色体显性皮肤病定位于12q23 - q24.1。这为双相情感障碍的遗传学研究提供了一个有趣的候选区域。我们研究了跨越毛囊角化病基因座的7个标记在45个双相情感障碍家系中的分离情况,发现其中5个标记在异质性条件下有适度的连锁支持证据。非参数分析提示与编码分泌型磷脂酶A2的基因处的一个标记存在连锁。我们的样本在检测异质性条件下的连锁方面能力相对较低,独立研究人员应在更多双相情感障碍家系样本中检查该区域的标记。

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