精神分裂癥和其他精神疾病的遺傳原因是復(fù)雜的，是人們所很不了解的,；而且,，由于復(fù)制速度降低對(duì)風(fēng)險(xiǎn)等位基因造成負(fù)選擇壓力，這些疾病的研究難度進(jìn)一步增大,。迄今為止,，雖然一些版本號(hào)變化已被與精神分裂癥聯(lián)系了起來，但研究工作相對(duì)較少,。
現(xiàn)在,，由兩個(gè)國(guó)際合作課題組對(duì)數(shù)以千計(jì)的患者和對(duì)照組所做的兩項(xiàng)獨(dú)立的大規(guī)模基因組范圍的研究工作,，證實(shí)了一個(gè)以前識(shí)別出來的位點(diǎn),，而且揭示了新的關(guān)聯(lián)性。在第一項(xiàng)研究（由DeCODE 和SGENE合作進(jìn)行）中,，研究人員在1號(hào)和15號(hào)染色體上發(fā)現(xiàn)了自然的版本號(hào)變異體,。在第二項(xiàng)研究（由“國(guó)際精神分裂癥聯(lián)盟”進(jìn)行）中,，研究人員在這些染色體上還發(fā)現(xiàn)了基因刪除，同時(shí)發(fā)現(xiàn)基因組中版本號(hào)變異的總體頻率較大,。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature 455, 232-236 (11 September 2008) | doi:10.1038/nature07229
Large recurrent microdeletions associated with schizophrenia
Reduced fecundity, associated with severe mental disorders1, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism2, schizophrenia3 and mental retardation4. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation4, 5 and autism2. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
