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| 購(gòu)買(mǎi)進(jìn)口儀器、試劑和耗材——就在始于2001年的畢特博生物 www.hcnanjing.cn |
美國(guó)研究人員最近報(bào)告說(shuō)，精神分裂癥并不是一種純粹的遺傳性疾病，有一半以上的精神分裂癥患者的病因源于自身基因突變，而不是遺傳。 在研究中，美國(guó)哥倫比亞大學(xué)的研究人員對(duì)精神分裂癥患者、其直系親屬和健康人的基因進(jìn)行了分析對(duì)比。研究報(bào)告刊登在近期出版的《自然—遺傳學(xué)》雜志上。 負(fù)責(zé)這項(xiàng)研究的哥倫比亞大學(xué)教授瑪麗亞·卡拉伊戈在15年前就發(fā)現(xiàn)，有一種非常罕見(jiàn)的基因突變可導(dǎo)致精神分裂癥。隨著基因檢測(cè)技術(shù)進(jìn)步，目前卡拉伊戈已經(jīng)把與精神分裂癥有關(guān)的基因突變種類(lèi)增至40種。 研究人員稱(chēng)，找到這些基因突變，改變了人們對(duì)精神分裂癥病因的認(rèn)識(shí)。
doi:10.1038/ng.902 Exome sequencing supports a de novo mutational paradigm for schizophrenia Bin Xu; J Louw Roos; Phillip Dexheimer; Braden Boone; Brooks Plummer; Shawn Levy; Joseph A Gogos; Maria Karayiorgou Despite its high heritability, a large fraction of individuals with schizophrenia do not have a family history of the disease (sporadic cases). Here we examined the possibility that rare de novo protein-altering mutations contribute to the genetic component of schizophrenia by sequencing the exomes of 53 sporadic cases, 22 unaffected controls and their parents. We identified 40 de novo mutations in 27 cases affecting 40 genes, including a potentially disruptive mutation in DGCR2, a gene located in the schizophrenia-predisposing 22q11.2 microdeletion region. A comparison to rare inherited variants indicated that the identified de novo mutations show a large excess of non-synonymous changes in schizophrenia cases, as well as a greater potential to affect protein structure and function. Our analyses suggest a major role for de novo mutations in schizophrenia as well as a large mutational target, which together provide a plausible explanation for the high global incidence and persistence of the disease. |
購(gòu)買(mǎi)進(jìn)口儀器、試劑和耗材——就在始于2001年的畢特博生物
www.hcnanjing.cn |
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