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在一个芬兰大家庭中,X染色体q24-q27.1区域存在双相情感障碍易感基因座的证据。

Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree.

作者信息

Pekkarinen P, Terwilliger J, Bredbacka P E, Lönnqvist J, Peltonen L

机构信息

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

出版信息

Genome Res. 1995 Sep;5(2):105-15. doi: 10.1101/gr.5.2.105.

Abstract

An X-chromosomal predisposing locus to manic-depressive illness has been suggested since 1969 on the basis of the cosegregation of this trait in some families with phenotypic markers, such as color blindness, the glucose-6-phosphate dehydrogenase deficiency, and the coagulation factor IX deficiency. However, the conclusive evidence and the exact location of the putative X-chromosomal locus have remained controversial. We report here a linkage between DNA markers near the coagulation factor IX gene and bipolar disorder in an extended pedigree rising from the genetically isolated population of Finland. A distinct chromosomal haplotype covering a 20-cM region on Xq24-q27.1 could be demonstrated to segregate with bipolar disorder. These findings should encourage research groups to study extended family materials with Xq24-q27.1 markers to finally resolve the question of the X-chromosomal linkage of bipolar disorder.

摘要

自1969年以来,基于躁郁症在一些家族中与诸如色盲、葡萄糖-6-磷酸脱氢酶缺乏症和凝血因子IX缺乏症等表型标记的共分离现象,人们提出了一个位于X染色体上的躁郁症易感基因座。然而,关于这个假定的X染色体基因座的确切证据和精确位置一直存在争议。我们在此报告,在一个源自芬兰遗传隔离人群的大家庭中,凝血因子IX基因附近的DNA标记与双相情感障碍之间存在连锁关系。可以证明,一个覆盖Xq24-q27.1上20厘摩区域的独特染色体单倍型与双相情感障碍共分离。这些发现应会促使研究团队利用Xq24-q27.1标记研究大家庭资料,以最终解决双相情感障碍的X染色体连锁问题。

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