分子生物学在精神疾病中的应用。基因组DNA和脑mRNA分析。

Psychiatric developments Pub Date : 1985-01-01
H Gurling
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摘要

分子生物学和遗传学技术使系统地研究基因对人类疾病的影响成为可能。专门编码人类大脑结构和功能的基因簇的数量可能约为1600个,占所有基因簇的一半。进化效应,如连锁不平衡和外显子(DNA编码结构蛋白)的保护,以及涉及的基因簇数量可控制的事实,倾向于使DNA病理或DNA变异(多态性)倾向于精神疾病可以被检测到。与精神疾病有关的基因可以通过直接研究从血液样本中获得的DNA(基因组DNA)或通过分析来自适当细胞或组织制剂的mRNA和蛋白质来检测。人类大脑中基因表达的研究仍处于起步阶段,但有一些迹象表明,非多聚腺苷化mrna可能在大脑发育中起重要作用,某些转录序列可能在大脑的基因表达中起特定作用。通过在多个受影响的家庭中使用连锁和关联分析来研究基因组DNA的优点是,它最终几乎肯定会对具有大量遗传输入的疾病产生积极的结果。从理论上讲,对大脑等组织的基因产物的分析可以检测到特定的疾病基因,但这种方法也将识别出受疾病过程继发影响的基因。区分主要导致精神疾病的基因与继发性影响的基因可以通过在多重影响家庭中使用这些候选基因作为连锁标记来进行。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Application of molecular biology to mental illness. Analysis of genomic DNA and brain mRNA.

Techniques in molecular biology and genetics have made it possible to systematically study gene effects in human disease. The number of gene clusters specifically encoding human brain structure and function is probably about 1,600 or half of all clusters. Evolutionary effects such as linkage disequilibrium and conservation of exons (DNA encoding structural proteins) as well as the fact that there are a tractable number of gene clusters involved, tend to make it quite likely that DNA pathology or DNA variation (polymorphism) predisposing to mental illness can be detected. Genes involved in mental illness can be detected either by studying DNA obtained from blood samples (genomic DNA) directly or by the analysis of mRNA and proteins from suitable cell or tissue preparations. The study of gene expression in the human brain is still in its infancy, nevertheless there are some hints that non-poly-adenylated mRNAs may be important in brain development and certain transcribed sequences may have a specific role in gene expression of the brain. The advantage of studying genomic DNA by the use of linkage and association analysis in multiply affected families is that it will, in the end, almost certainly yield a positive result for a disease with a substantial genetic input. Analysis of gene products from tissues such as brain could in theory detect specific disease genes but the approach will also identify genes secondarily affected by the disease process. Differentiation of genes that are primarily causing mental illness from those that are secondarily affected can be carried out by using such candidate genes as linkage markers in multiply affected families.

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