购买进口仪器、试剂和耗材——就在始于2001年的毕特博生物 www.bitebo.com |
美国研究人员最近报告说,精神分裂症并不是一种纯粹的遗传性疾病,有一半以上的精神分裂症患者的病因源于自身基因突变,而不是遗传。 在研究中,美国哥伦比亚大学的研究人员对精神分裂症患者、其直系亲属和健康人的基因进行了分析对比。研究报告刊登在近期出版的《自然—遗传学》杂志上。 负责这项研究的哥伦比亚大学教授玛丽亚·卡拉伊戈在15年前就发现,有一种非常罕见的基因突变可导致精神分裂症。随着基因检测技术进步,目前卡拉伊戈已经把与精神分裂症有关的基因突变种类增至40种。 研究人员称,找到这些基因突变,改变了人们对精神分裂症病因的认识。
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. |
购买进口仪器、试剂和耗材——就在始于2001年的毕特博生物
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