《美國(guó)人類遺傳學(xué)雜志》（American Journal of Human Genetics）最近刊登了美國(guó)加州大學(xué)洛杉磯分校的一項(xiàng)最新研究,。研究發(fā)現(xiàn)了可能會(huì)導(dǎo)致患有精神分裂癥的3個(gè)新候選基因。研究人員認(rèn)為,，對(duì)這些候選基因的確定將為研究和治療精神分裂癥提供重要的參考,。
精神分裂癥是一種以感知,、思維、情感,、行為等多方面的障礙,，以及精神活動(dòng)與環(huán)境不協(xié)調(diào)為特征的最常見精神病。精神分裂癥是一種多基因遺傳病,，它給社會(huì)和家庭造成了巨大的負(fù)擔(dān),。研究人員研究了基因組中具有缺失和重復(fù)的病人，也就是拷貝數(shù)變異(CNVs)現(xiàn)象,。結(jié)果發(fā)現(xiàn),，有3種基因的拷貝數(shù)突變會(huì)與腦部功能有關(guān)，從而會(huì)增加患有精神分裂癥的幾率,。研究人員對(duì)750多名精神分裂癥患者進(jìn)行了研究,，發(fā)現(xiàn)有1％患者中的這三個(gè)基因缺失。盡管人群中基因拷貝數(shù)變異的幾率只有1%,，但是這些拷貝數(shù)和其他染色體位點(diǎn)上拷貝數(shù)的變異可能與人類腦部發(fā)育息息相關(guān),。
研究人員表示，這3個(gè)基因變異可能會(huì)增加患精神分裂癥的風(fēng)險(xiǎn),，導(dǎo)致普通人患精神分裂癥的幾率增高,。對(duì)這3個(gè)候選基因的確定將為研究和治理精神分裂癥提供重要的參考。（生物谷Bioon.com）
生物谷推薦原始出處：
American Journal of Human Genetics,，doi:10.1016/j.ajhg.2008.09.011,，Terry Vrijenhoek, Roel A. Ophoff, Joris A. Veltman
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Terry Vrijenhoek1, 6, Jacobine E. Buizer-Voskamp2, 3, 6, Inge van der Stelt1, Eric Strengman3, Genetic Risk and Outcome in Psychosis (GROUP) Consortium7, Chiara Sabatti4, Ad Geurts van Kessel1, Han G. Brunner1, Roel A. Ophoff2, 3, 5, , and Joris A. Veltman1
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands 2Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Centre 3584 CX Utrecht, Utrecht, The Netherlands 3Complex Genetics Section, Division of Biomedical Genetics, Department of Medical Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands 4Departments of Human Genetics and Statistics, University of California Los Angeles, Los Angeles, CA 90095, USA 5Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA
Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately 1% of the general population. Most genetics studies so far have focused on disease association with common genetic variation, such as single-nucleotide polymorphisms (SNPs), but it has recently become apparent that large-scale genomic copy-number variants (CNVs) are involved in disease development as well. To assess the role of rare CNVs in schizophrenia, we screened 54 patients with deficit schizophrenia using Affymetrix's GeneChip 250K SNP arrays. We identified 90 CNVs in total, 77 of which have been reported previously in unaffected control cohorts. Among the genes disrupted by the remaining rare CNVs are MYT1L, CTNND2, NRXN1, and ASTN2, genes that play an important role in neuronal functioning but—except for NRXN1—have not been associated with schizophrenia before. We studied the occurrence of CNVs at these four loci in an additional cohort of 752 patients and 706 normal controls from The Netherlands. We identified eight additional CNVs, of which the four that affect coding sequences were found only in the patient cohort. Our study supports a role for rare CNVs in schizophrenia susceptibility and identifies at least three candidate genes for this complex disorder.
