Koreth J, O'Leary J J, O'D McGee J
Nuffield Department of Pathology and Bacteriology, University of Oxford, John Radcliffe Hospital, UK.
J Pathol. 1996 Mar;178(3):239-48. doi: 10.1002/(SICI)1096-9896(199603)178:3<239::AID-PATH506>3.0.CO;2-5.
Microsatellites form a significant proportion of the growing family of repetitive DNA sequences, widely dispersed in the human genome. Due to their ubiquity, PCR (polymerase chain reaction) typability, Mendelian co-dominant inheritance, and extreme polymorphism, microsatellites have assumed an increasingly important role as markers in the genome. Apart from their obvious applications in genome mapping and positional cloning, these markers have been applied in fields as disparate as tumour biology, personal identification, population genetic analysis, and the construction of human evolutionary trees. Microsatellites are associated with human disease, not only as markers of risk but also directly in disease aetiopathogenesis, providing new insights into non-Mendelian inheritance; the replication, repair, and mutation of eukaryotic DNA; the regulation of gene transcription; and protein-protein interactions. These insights have resulted in novel paradigms for oncogenesis and neurological disease.
微卫星在不断增长的重复DNA序列家族中占很大比例,广泛分布于人类基因组中。由于其普遍性、PCR(聚合酶链反应)分型能力、孟德尔共显性遗传以及极端多态性,微卫星作为基因组中的标记物发挥着越来越重要的作用。除了在基因组图谱绘制和定位克隆中的明显应用外,这些标记物还被应用于肿瘤生物学、个人身份识别、群体遗传分析以及人类进化树构建等截然不同的领域。微卫星与人类疾病相关,不仅作为风险标记物,还直接参与疾病的病因发病机制,为非孟德尔遗传、真核DNA的复制、修复和突变、基因转录调控以及蛋白质 - 蛋白质相互作用提供了新的见解。这些见解催生了肿瘤发生和神经疾病的新范式。