直接单倍型解析的单分子稀释（SMD）方法的理论基础。
Theoretical underpinning of the single-molecule-dilution (SMD) method of direct haplotype resolution.
作者信息
Stephens J C, Rogers J, Ruano G
机构信息
Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06511.
出版信息
Am J Hum Genet. 1990 Jun;46(6):1149-55.
Abstract
In a recent paper we have shown that DNA haplotypes of multiply heterozygous individuals can be resolved directly by polymerase-chain-reaction (PCR) amplification of a single molecule of genomic template. Our method (the single-molecule-dilution [SMD] method) relies on the stochastic separation of maternal and paternal alleles at high dilution. The stochasticity of separation and the potential for DNA shearing (which could separate the loci of interest) are two factors that can compromise the results of the experiment. This paper explores the consequences of these two factors and shows that the SMD method can be expected to work very reliably even in the presence of a moderate amount of DNA shearing.
摘要
在最近的一篇论文中，我们已经表明，多重杂合个体的DNA单倍型可通过对单个基因组模板分子进行聚合酶链反应（PCR）扩增而直接解析。我们的方法（单分子稀释[SMD]法）依赖于在高稀释度下母本和父本等位基因的随机分离。分离的随机性以及DNA剪切的可能性（这可能会分离出感兴趣的基因座）是可能影响实验结果的两个因素。本文探讨了这两个因素的影响，并表明即使存在适度的DNA剪切，SMD方法仍有望非常可靠地发挥作用。
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