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背景人类基因组计划带来的技术进步正在加速包括脑卒中在内的一般性疾病遗传学研究的步伐。不久之后,脑卒中的诊断需要加入对日益复杂的遗传学研究的诠释。概述在确定基因变异对像脑卒中这样的一般性疾病的影响的工作中,连锁分析和流行病学相关分析是两种基本的分析方法。通过将这些分析方法与高度发达的分子遗传技术的结合,3个最近发表的研究对一般性血管疾病的遗传学机制的阐明做出了很大贡献:在5号染色体长臂1区2带上发现了脑卒中的易感基因以及确定了一些身为心肌梗死发病危险因素的基因变异。在基因组技术的驱动下,未来的研究在评价遗传学因素对于脑卒中的临床诊断贡献的过程中将会越来越全面和系统。这样的研究规模和复杂性需要脑卒中诊断医师、遗传学家和生物信息学家之间进行大规模合作。结论研究设计和实验技术的快速进展可能有助于阐明通过遗传获得的基因变异在复杂性疾病(如脑卒中)发病中的地位。弄清基于人群的遗传学研究方法和人类基因组中的变异的模式将有助于脑卒中医师跟上研究发展的步伐。
Background The technological advances brought about by the Human Genome Project are accelerating the pace of general disease genetics research, including stroke. Shortly thereafter, the diagnosis of stroke requires the interpretation of increasingly complex genetic studies. Overview Linkage analysis and epidemiological correlation analysis are two basic methods of analysis in determining the impact of genetic variation on a generalized disease such as stroke. By combining these analytical methods with highly developed molecular genetic techniques, three recently published studies have contributed significantly to the elucidation of the genetic mechanisms of generalized vascular disease: on zone 2 of the long arm of chromosome 5 Found susceptibility genes for stroke and identified a number of genetic variants that are risk factors for myocardial infarction. Driven by genomic technologies, future research will become more and more comprehensive and systematic in assessing the contribution of genetic factors to the clinical diagnosis of stroke. Such scale and complexity of research require large-scale collaborations among stroke diagnostics physicians, geneticists and bioinformatics experts. Conclusions The rapid advances in research design and experimental techniques may help elucidate the role of genetic mutations in the pathogenesis of complex diseases such as stroke. Understanding patterns of population-based genetic research and variations in the human genome will help stroke physicians keep up with the pace of research and development.