Kim S J, Veenstra-VanderWeele J, Hanna G L, Gonen D, Leventhal B L, Cook E H
Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, 5841 S Maryland Avenue, Chicago, IL 60637, USA.
Mol Cell Probes. 2000 Feb;14(1):47-52. doi: 10.1006/mcpr.1999.0281.
The serotonin receptor 2B gene (HTR2B; MIM 601122) is a pharmacological and positional candidate gene in early-onset obsessive-compulsive disorder. Sequences of a putative promoter region and splice regions were first elucidated, then sequenced along with HTR2B coding regions. Probands from seven families included in a previous genome scan in which one of the strongest linkage findings was to a region including HTR2B, along with two genomic DNA pools of 10 unrelated control subjects and 10 unrelated autism probands were screened. One single nucleotide polymorphism was found in intron 1, that may be useful as a marker in genetic linkage and association studies. It does not appear likely to affect splicing. No evidence for functional mutation was found in the sequenced regions of HTR2B.
血清素受体2B基因（HTR2B；MIM 601122）是早发性强迫症的一个药理学和定位候选基因。首先阐明了一个假定启动子区域和剪接区域的序列，然后与HTR2B编码区域一起进行测序。对先前基因组扫描中纳入的7个家系的先证者进行了筛查，在该扫描中，最强的连锁发现之一是与一个包括HTR2B的区域相关，同时还对10名无关对照受试者和10名无关自闭症先证者的两个基因组DNA池进行了筛查。在内含子1中发现了一个单核苷酸多态性，这可能作为遗传连锁和关联研究中的一个标记。它似乎不太可能影响剪接。在HTR2B的测序区域未发现功能突变的证据。
