沖動(dòng)行為（不考慮后果的行動(dòng)）是幾種精神疾病的一個(gè)特征,，其中一些已被發(fā)現(xiàn)具有中度遺傳性,。在尋找這種遺傳性的基因特征的一項(xiàng)研究工作中,，研究人員將外顯子測(cè)序工作的重點(diǎn)放在有嚴(yán)重沖動(dòng)特征的芬蘭刑事罪犯的14個(gè)血清素和多巴胺相關(guān)基因上，其結(jié)果顯示,，沖動(dòng)與“終止密碼子”HTR2B的一個(gè)突變有聯(lián)系,。研究人員以前并不知道該基因（它編碼5HT2B血清素受體）影響行為,。這種血清素受體在沖動(dòng)行為中所起作用得到了剔除該基因的小鼠表現(xiàn)型的進(jìn)一步支持,。（生物谷Bioon.com）
生物谷推薦原文出處：
Nature doi:10.1038/nature09629
A population-specific HTR2B stop codon predisposes to severe impulsivity
Laura Bevilacqua,Stéphane Doly,Jaakko Kaprio,Qiaoping Yuan,Roope Tikkanen,Tiina Paunio,Zhifeng Zhou,Juho Wedenoja,Luc Maroteaux,Silvina Diaz,Arnaud Belmer,Colin A. Hodgkinson,Liliana Dell’Osso,Jaana Suvisaari,Emil Coccaro,Richard J. Rose,Leena Peltonen,Matti Virkkunen& David Goldman
Impulsivity, describing action without foresight, is an important feature of several psychiatric diseases, suicidality and violent behaviour. The complex origins of impulsivity hinder identification of the genes influencing it and the diseases with which it is associated. Here we perform exon-focused sequencing of impulsive individuals in a founder population, targeting fourteen genes belonging to the serotonin and dopamine domain. A stop codon in HTR2B was identified that is common (minor allele frequency >?1%) but exclusive to Finnish people. Expression of the gene in the human brain was assessed, as well as the molecular functionality of the stop codon, which was associated with psychiatric diseases marked by impulsivity in both population and family-based analyses. Knockout of Htr2b increased impulsive behaviours in mice, indicative of predictive validity. Our study shows the potential for identifying and tracing effects of rare alleles in complex behavioural phenotypes using founder populations, and indicates a role for HTR2B in impulsivity.
