1 精神分裂。res。2001年7月50日:151-7
PMID 11439235
标题 Is reduced dermatoglyphic a-b ridge count a reliable marker of developmental impairment in schizophrenia?
Abstract 手指和手印是在胎儿发育的第一和妊娠中期和妊娠中期形成的,之后它们保持不变。它们的表达可能受遗传和环境因素的影响。一些研究表明,总指脊数量减少(TFRC) and, in particular, a reduce total a-b ridge count (TABRC), may be associated with精神分裂症
在一个大型的种族同质样本中研究这两个变量,并将我们的发现与其他最新研究的发现进行比较。
Finger and hand prints of 150 people with DSM-III-R精神分裂症将其与92个健康对照的对照进行了比较。
Patients had a reduced mean TABRC (P = 0.03) compared with controls. There was a significant (P=0.02) linear trend for lower TABRC and increasing incidence of精神分裂症(OrlineArtrend = 1.3; 95%CI1.1-1.7),这意味着不断增加的风险精神分裂症with reduction in TABRC. No significant difference between groups was observed forTFRC
These results provide further evidence that dermatoglyphic abnormalities exist in at least some patients with精神分裂症and that the a-b ridge count may be a marker of disruption, probably environmental, that occurs when the developing brain may also be particularly vulnerable to such insult. These findings support the concept that some cases of精神分裂症may be due to adverse intrauterine events.
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
2 Anal. Biochem. 2009 Aug 391: 91-7
PMID 19464249
标题 检测精神分裂症和躁郁症中实时PCR分析的稳定参考基因。
Abstract Gene expression studies using postmortem human brain tissue are a common tool for studying the etiology of psychiatric disorders. Quantitative real-time PCR (qPCR) is an accurate and sensitive technique used for gene expression analysis in which the expression level is quantified by normalization to one or more reference genes. Therefore, accurate data normalization is critical for validating results obtained by qPCR. This study aimed to identify genes that may serve as reference in postmortem dorsolateral-prefrontal cortices (Brodmann's area 46) of精神分裂症年代,bipolar disorder (BPD) patients, and control subjects. In the exploratory stage of the analysis, samples of four BPD patients, two精神分裂症S和两个对照使用Taqman低密度阵列内源控制面板进行了定量,其中包含16个常用参考基因​​的测定。在下一阶段,其中六个基因(TFRC通过qPCR在每个临床组的12个样本中对,QPCR定量,RPLP0,ACTB,POLR2A,B2M和GAPDH)。基因的表达稳定性由Genorm和Normfinder确定。TFRCand RPLP0 were the most stably expressed genes, whereas the commonly used 18S, POLR2a, and GAPDH were the least stable. This report stresses the importance of examining expressional stability of candidate reference genes in the specific sample collection to be analyzed.
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
3 Anal. Biochem. 2009 Aug 391: 91-7
PMID 19464249
标题 检测精神分裂症和躁郁症中实时PCR分析的稳定参考基因。
Abstract Gene expression studies using postmortem human brain tissue are a common tool for studying the etiology of psychiatric disorders. Quantitative real-time PCR (qPCR) is an accurate and sensitive technique used for gene expression analysis in which the expression level is quantified by normalization to one or more reference genes. Therefore, accurate data normalization is critical for validating results obtained by qPCR. This study aimed to identify genes that may serve as reference in postmortem dorsolateral-prefrontal cortices (Brodmann's area 46) of精神分裂症年代,bipolar disorder (BPD) patients, and control subjects. In the exploratory stage of the analysis, samples of four BPD patients, two精神分裂症S和两个对照使用Taqman低密度阵列内源控制面板进行了定量,其中包含16个常用参考基因​​的测定。在下一阶段,其中六个基因(TFRC通过qPCR在每个临床组的12个样本中对,QPCR定量,RPLP0,ACTB,POLR2A,B2M和GAPDH)。基因的表达稳定性由Genorm和Normfinder确定。TFRCand RPLP0 were the most stably expressed genes, whereas the commonly used 18S, POLR2a, and GAPDH were the least stable. This report stresses the importance of examining expressional stability of candidate reference genes in the specific sample collection to be analyzed.
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
4 J Med Assoc Thai 2011 3月94日:386-94
PMID 21560848
标题 Dermatoglyphic traits in Thai schizophrenia patients: a matching case-control study.
Abstract 比较指纹,dermatog的手段lyphic variables i.e., total finger ridge count, total a-b ridge count, pattern complexity index, and fingerprint pattern asymmetry between patients with精神分裂症和正常对照。
进行了横截面,匹配的病例对照。34名男性和34位女性精神分裂症并选择了相等数量的年龄和性别匹配的正常对照。所有受试者的指纹和部分棕榈印刷是使用自动墨水指纹成像软件和透明粘合胶带技术获得的。使用配对的t检验(p <0.05),分别比较了病例和对照,男性和女性的指纹模式不对称性,总指脊计数(TFRC), a-b ridge counts of the right (RABRC), left (LABRC), and both hands (TABRC), and pattern complexity index (PCI).
Between cases and controls, neither sex had any significant differences in the mean scores for the pattern asymmetries,TFRC,右左abrc和tabrc。但是,男性病例和对照组之间PCI的平均得分显着差异(2.82 vs. 4.94,p = 0 009)。
只有男性患者表现出复杂模式的平均得分(Whorls负小于2),这可能是筛查的生物标志物精神分裂症in males.
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
5 Am J Psychiatry 2011 3月168日:302-16
PMID 21285140
标题 Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Abstract 评估先前报道的拷贝数变体(CNV)的关联精神分裂症为了确定其他关联,作者分析了CNV的分子遗传学精神分裂症研究(MGS)和其他可用数据。
After quality control, MGS data for 3,945 subjects with精神分裂症或精神分裂症和3,611个筛选的比较受试者可用于分析稀有CNV(<1%频率)。选择CNV检测阈值,以最大化151个重复测定中的一致性。进行了点和基因分析,并对先前报道的区域进行了分析。通过定量聚合酶链反应对选定的区域进行视觉检查并确认。
在对MGS数据与其他可用数据集结合的分析中,观察到7.5或更高的优势比在先前报道的染色体1q21.1、15q13.3和22Q11.21中的缺失中观察到了更高的比率,16p11.2的重复和外部删除删除的删除的删除率为16p11.21在nrxn1中。跨数据集的最稳定支持的候选关联包括3q29染色体中的1.6-MB缺失(21个基因,,,,TFRC对BDH1)以前在轻度中度心理障碍综合征中描述,血管活性肠肽受体2(VIPR2)基因中的外显子重复(VIPR2)和C16ORF72中的外显子重复。该病例受试者具有较高的全基因组含有基因的缺失(> 100 kb和> 1 Mb),但重复的含量较高。
The data strongly confirm the association of精神分裂症具有1q21.1、15q13.3和22q11.21删除,16p11.2重复和exonic nrxn1删除。这些CNV以及3Q29缺失也与智力低下,自闭症谱系障碍和癫痫有关。确定了包括VIPR2在内的其他候选基因和区域。研究这些关联的机制应阐明精神分裂症
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
6 J Psychiatr Res 2011 11月45:1411 - 8
PMID 21704324
标题 RT-qPCR study on post-mortem brain samples from patients with major psychiatric disorders: reference genes and specimen characteristics.
Abstract Gene expression studies conducted in post-mortem human brain samples have the potential to identify relevant genes implicated in psychiatric disorders. Although reverse transcription quantitative real-time PCR (RT-qPCR) has emerged as the method of choice for specific gene expression studies, it requires the use of stable reference genes, and it is necessary to control for pre- and post-mortem factors to obtain reliable data.
这项研究的目的是确定合适的参考基因和标本特征,在比较精神病患者和对照组的验尸脑标本之间的mRNA表达数据时,可以考虑到这些特征。
We used a selection of suitably matched occipital cortex specimens from subjects in each of the following groups:精神分裂症(N�=�15), bipolar disorder (N�=�13), major depressive disorder (N�=�15), and control (N�=�15). Quantitative and qualitative RNA analyses were performed prior to RT-qPCR and gene expression stability was evaluated with geNorm and NormFinder.
我们确定了GAPDH,RPS17,RPL30,RPLP0和TFRCas potential reference genes from a sample plate containing 32 candidates commonly used as reference genes. Further analyses of these 5 genes highlighted that 1) they are suitable reference genes for RT-qPCR studies in these post-mortem brain samples from psychiatric patients, and 2) the RNA quality index is highly correlated with gene expression values (r�=�-0.681, p�<�0.0001).
In addition to controlling for pre- and post-mortem factors and selecting stable reference genes for normalization, sample sets should be matched with regard to RNA quality.
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
7 World J Psychiatry 2013 Sep 3: 57-61
PMID 24255876
标题 New findings in the genetics of schizophrenia.
Abstract New findings in精神分裂症genetics are based on genome-wide association studies (GWAS), research into DNA copy number variations (CNVs), and endophenotypes. More than 70 genes have recently been suspected to be involved in the genetic background of精神分裂症根据GWAS的结果。它们通常与神经发育/神经塑性,免疫学和神经内分泌学有关。然而,对于许多检测到的基因,它们可能与精神分裂症etiopathogenesis is still unknown. The CNVs at genome loci 1q21.1 (candidate gene e.g., PRKAB2), 2p16.3 (candidate gene e.g., NRXN1), 3q29 (candidate genes e.g., BDH1, DLG1, PAK2 orTFRC),15q11.2(候选基因,例如Cyfip1),15q13.3(候选基因,例如Chrna7),16p13.1(候选基因,例如NTAN1或NDE1或NDE1)和22Q11.2(候选基因)与精神分裂症most frequently. Genetic research of精神分裂症endophenotypes, usually neurophysiological, neuromotoric, neurocognitive, neuroanatomical, neurological or personality-related, will help us to discover the role of relevant genes in the pathogenesis of精神分裂症。还必须将其他研究平台的知识整合在beplay苹果手机能用吗精神分裂症, like epigenetics, studies of gene-environment interactions, transcriptomics, proteomics, metabolomics, neuroimaging and psychopathology. A better knowledge of the genetic background of精神分裂症can lead to changes in the treatment, prevention and genetic counselling. It may also reduce stigma in this severe mental disorder.
SCZ Keywords 精神分裂症,精神分裂症,精神分裂症患者
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