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红细胞酸性磷酸酶(ACP1)及位于2号染色体短臂末端至2p23区域的侧翼标记物与抽动秽语综合征之间不存在连锁关系。

Linkage to Tourette syndrome is excluded for red-cell acid phosphatase (ACP1) and flanking markers on chromosome 2pter-2p23.

作者信息

Devor E J, Henderson V, Sparkes R S

机构信息

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110.

出版信息

Hum Biol. 1991 Apr;63(2):221-6.

PMID:2019415
Abstract

A recent linkage study of Tourette syndrome with markers in the distal region of chromosome 2p gave a contradictory result with red-cell acid phosphatase (ACP1) compared to the nearby anonymous DNA markers. A modifier gene that is suspected of leading to reduced penetrance of the gene that causes the degenerative neurologic disorder Joseph disease has been hypothesized to lie on chromosome 2p25 near the ACP1 locus. Because Tourette syndrome (TS) has also been shown to have reduced sex-specific penetrance, ACP1 typings were performed on 12 families segregating TS, and pair-wise linkage analysis was carried out. Linkage was excluded for nearly 15 cM on either side of the ACP1 locus. Unpublished exclusion data from several laboratories permit exclusion of a linkage group extending from 2pter to 2p23. Furthermore, no support for the presence of any type of modifier of TS gene expression could be seen in these data.

摘要

最近一项关于抽动秽语综合征与2号染色体短臂远端区域标记物的连锁研究表明,与附近的无名DNA标记物相比,红细胞酸性磷酸酶(ACP1)得出了相互矛盾的结果。据推测,一个导致退行性神经疾病约瑟夫病的基因外显率降低的修饰基因位于2号染色体短臂2区5带靠近ACP1基因座的位置。由于抽动秽语综合征(TS)也表现出性别特异性外显率降低,因此对12个分离TS的家族进行了ACP1分型,并进行了成对连锁分析。在ACP1基因座两侧近15厘摩的范围内排除了连锁关系。来自几个实验室的未发表的排除数据允许排除从2号染色体短臂末端到2号染色体短臂2区3带的一个连锁群。此外,在这些数据中没有发现对TS基因表达存在任何类型修饰物的支持。

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