Epplen J T, Melmer G, Schmidt P, Roewer L, Hundrieser J, Epplen C, Buitkamp J
Molekulare Humangenetik, Ruhr-Universität, Bochum.
Clin Investig. 1992 Nov;70(11):1043-51. doi: 10.1007/BF00180316.
The purpose of this review is to discuss critically the practical meaning of a specific genome component, simple repetitive desoxyribonucleic acid (DNA) sequences as clinical and forensic and diagnostic and research tools. Previously, multilocus DNA fingerprinting was the major technology employed to visualize such simple repeat sequences. This technique enables many polymorphic loci to be simultaneously detected thus yielding vast amounts of information. With the advent of enzymatic DNA amplification via the polymerase chain reaction (PCR), individual simple repeat loci can be demonstrated, theoretically even from single DNA molecules and so a wealth of additional approaches have also become feasible. In general investigating, small, known, single copy parts of genomes have not posed truly insurmountable problems if enough material was available. There have even been a few (anecdotal) reports on the amplification of simple repeats from ancient DNA (see, e.g. [30]. Here we would like to after a solid basis for an earnest discussion of the applications of these simple repetitive sequences using various methodological approaches relevant for clinical diagnosis, setting aside the obvious unsolved mysteries of their biology.
本综述的目的是批判性地讨论特定基因组成分——简单重复脱氧核糖核酸(DNA)序列作为临床、法医、诊断和研究工具的实际意义。以前,多位点DNA指纹图谱是用于可视化此类简单重复序列的主要技术。该技术能够同时检测许多多态性位点,从而产生大量信息。随着通过聚合酶链反应(PCR)进行酶促DNA扩增的出现,单个简单重复位点可以得到证实,理论上甚至可以从单个DNA分子中得到证实,因此大量其他方法也变得可行。一般来说,如果有足够的材料,研究基因组中已知的小单拷贝部分并没有真正无法克服的问题。甚至有一些(轶事性的)关于从古代DNA中扩增简单重复序列的报道(例如,见[30])。在这里,我们希望在认真讨论这些简单重复序列在临床诊断中的应用的坚实基础上,抛开其生物学方面明显未解决的谜团,采用各种相关的方法学途径。