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Nucleic Acids Res. 1989 Mar 25;17(6):2197-201. doi: 10.1093/nar/17.6.2197.
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Direct cloning and sequence analysis of enzymatically amplified genomic sequences.酶促扩增基因组序列的直接克隆与序列分析
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2
Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products.通过人类基因组DNA的酶促扩增和聚合酶链反应产物的直接测序诊断α1-抗胰蛋白酶缺乏症。
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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.用于镰状细胞贫血诊断的β-珠蛋白基因组序列的酶促扩增及限制性酶切位点分析。
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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.使用热稳定DNA聚合酶进行引物引导的DNA酶促扩增。
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聚合酶链反应：复制错误与基因诊断的可靠性

Polymerase chain reaction: replication errors and reliability of gene diagnosis.

作者信息

Krawczak M, Reiss J, Schmidtke J, Rösler U

机构信息

Institut für Humangenetik, Göttingen, FRG.

出版信息

Nucleic Acids Res. 1989 Mar 25;17(6):2197-201. doi: 10.1093/nar/17.6.2197.

DOI:10.1093/nar/17.6.2197
PMID:2565023
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC317589/
Abstract

The impact of replication errors on the reliability of polymerase chain reaction (PCR) data is studied theoretically. Practical applications of our results to RFLP analysis and oligonucleotide probing confirm that for practical purposes replication errors can be neglected if a large number of starting templates (e.g. 100,000) is being used. For single locus analysis in single cells, however, the probability of false diagnosis due to such errors is of the order of 1 percent.

摘要

从理论上研究了复制错误对聚合酶链反应（PCR）数据可靠性的影响。我们的结果在限制性片段长度多态性（RFLP）分析和寡核苷酸探测中的实际应用证实，出于实际目的，如果使用大量起始模板（例如100,000个），复制错误可以忽略不计。然而，对于单细胞中的单基因座分析，由于此类错误导致误诊的概率约为1%。