Roewer L, Arnemann J, Spurr N K, Grzeschik K H, Epplen J T
Max-Planck-Institut für Psychiatrie, Martinsried, Federal Republic of Germany.
Hum Genet. 1992 Jun;89(4):389-94. doi: 10.1007/BF00194309.
The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative, polymorphic markers. Typing procedures include conventional multilocus and single locus probing, and polymerase chain reaction aided analysis. We have identified simple sequences in a cosmid clone stemming from the human Y chromosome and consisting of (gata)n repeats. We have compared these with two equivalent simple repeat loci from chromosome 12. After amplifying the tandemly repeated motifs, we detected between four and eight different alleles at each of the three loci. Codominant inheritance of the alleles was established in family studies and the informativity of the simple repeat loci was determined by typing unrelated individuals. The polymorphisms are suitable for application in linkage studies, practical forensic case work, deficiency cases in paternity determination, and for studying ethnological questions. The mutational mechanisms that bring about changes in simple repeats located both on the autosomes and on the sex chromosomes, are discussed.
人类基因组包含大量散布的简单重复序列，其长度可变，因此可作为信息丰富的多态性标记。分型程序包括传统的多位点和单位点探针检测，以及聚合酶链反应辅助分析。我们在一个源于人类Y染色体且由（gata）n重复序列组成的黏粒克隆中鉴定出了简单序列。我们将这些序列与来自12号染色体的两个等效简单重复位点进行了比较。在扩增串联重复基序后，我们在这三个位点中的每个位点检测到4至8个不同的等位基因。在家族研究中确定了等位基因的共显性遗传，并通过对无关个体进行分型来确定简单重复位点的信息性。这些多态性适用于连锁研究、实际法医案件工作、亲子鉴定中的缺失案例以及研究民族学问题。本文还讨论了导致常染色体和性染色体上简单重复序列发生变化的突变机制。
