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文章的题目为〈人类基因组单核苷酸多态性和单体型的分析及应用〉 SNP的定义 Haplotype的定义、单体型图、单体域 HapMap介绍 人类基因组中究竟有多少个常见的SNPs：
本文章：1500万
HapMap：1000万 究竟每隔多远有一个SNP位点？ 文章常用措辞：
这些SNP位于基因的编码区或非编码区，可能是人类基因组中疾病易感基因的遗传标记，甚至是直接影响癌症、心脏病、糖尿病与其他常见病的易感性基因位点。 关于SNP的研究热点：
1、利用人类基因组SNP多态信息探究遗传性状，特别是复杂疾病与药物反应的遗传机制； 本来上周五就准备好的报告要给老师看，可是他忙就推到了这周，今天又是一天不见踪影，试验就是这样被耽搁下来的。郁闷。 一些常见的疾病（特别是复杂疾病，多基因病）是由于环境因素和遗传因素导致的。
参考文献：King, R. A., Rotter, J. I. &Motulsky, A. G. The Genetic Basis of Common Diseases Vol. 20 (edsMotulsky, A. G., Harper, P. S., Scriver, C. & Bobrow, M.) (Oxford Univ. Press, Oxford, 1992). Searches for causative variants in chromosome regions identified by linkage analysis have been highly successful for many rare single-gene disorders. By contrast, linkage studies have been much less successful in locating genetic variants that affect common complex diseases, as each variant individually contributes only modestly to disease risk。通过连锁分析很容易的找到单基因病的遗传连锁位点，但是，对于复杂疾病，连锁分析对遗传位点的定位就比较困难，因为每一个变异都对复杂疾病有贡献。
参考文献：
Risch, N. J. Searching for genetic determinants in the new millennium. Nature 405, 847–856 (2000).
Botstein, D. & Risch, N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nature Genet. 33 (Suppl.), 228–237 (2003).
A complementary approach to identifying these specific genetic risk factors is to search for an association between a specific variant and a disease, by comparing a group of affected individuals with a group of unaffected controls.比较疾患个体和正常个体，通过对特定变异和疾病的关联分析来研究那些特定的遗传风险因子。这便可对复杂疾病进行有效的遗传学分析。
参考文献：
[i]Risch, N. & Merikangas, K. The future of genetic studies of complex human diseases. Science 273,1516–1517 (1996).[/i]
下面列举了几个通过关联分析取得一定成果的几个实例。
In the absence of strong natural selection, there is likely to be a broad spectrum of frequency of such variants, many of which are likely to be common in the population.A number of association studies, focused on candidate genes, regions of linkage to a disease or more large-scale surveys, have already led to the discovery of genetic risk factors for common diseases. Examples include type 1 diabetes (human leukocyte antigen (HLA5), insulin6 and CTLA4 (ref. 7)), Alzheimer’s disease (APOE)8, deep vein thrombosis (factor V)9, inflammatory bowel disease (NOD2 (refs 10, 11) and also 5q31 (ref. 12)), hypertriglyceridaemia (APOAV)13, type 2 diabetes (PPARG)14,15, schizophrenia (neuregulin 1)16, asthma (ADAM33)17, stroke (PDE4D)18 and myocardial infarction (LTA)19. linkage study 和 association study的异同？ 等位位点、基因型、基因分型、表现型 研究疾病和变异之间的关联的两个路径 有关测序 单体型推断方法： 介绍一个网站：Seattle SNPs
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作者:admin@医学,生命科学 2011-03-06 17:22
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