人类微卫星中的突变率：串联重复序列的结构和长度的影响。
Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.
作者信息
Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B
机构信息
Institut für Rechtsmedizin, Westfälische Wilhelms-Universität, Münster, Germany.
出版信息
Am J Hum Genet. 1998 Jun;62(6):1408-15. doi: 10.1086/301869.
Abstract
In 10,844 parent/child allelic transfers at nine short-tandem-repeat (STR) loci, 23 isolated STR mismatches were observed. The parenthood in each of these cases was highly validated (probability >99.97%). The event was always repeat related, owing to either a single-step mutation (n=22) or a double-step mutation (n=1). The mutation rate was between 0 and 7 x 10(-3) per locus per gamete per generation. No mutations were observed in three of the nine loci. Mutation events in the male germ line were five to six times more frequent than in the female germ line. A positive exponential correlation between the geometric mean of the number of uninterrupted repeats and the mutation rate was observed. Our data demonstrate that mutation rates of different loci can differ by several orders of magnitude and that different alleles at one locus exhibit different mutation rates.
摘要
在9个短串联重复序列（STR）位点的10,844次亲子等位基因传递中，观察到23个孤立的STR错配。这些案例中的亲子关系均得到高度验证（概率>99.97%）。该事件总是与重复相关，原因是单步突变（n = 22）或双步突变（n = 1）。突变率为每代每个配子每个位点0至7×10⁻³。9个位点中有3个未观察到突变。男性生殖系中的突变事件比女性生殖系中的频繁五到六倍。观察到不间断重复数的几何平均值与突变率之间呈正指数相关。我们的数据表明，不同位点的突变率可能相差几个数量级，并且一个位点的不同等位基因表现出不同的突变率。
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