Mutation rate in human microsatellites:: Influence of the structure and length of the tandem repeat
Mutation rate in human microsatellites:: Influence of the structure and length of the tandem repeat
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DOI：
10.1086/301869
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发表时间：
1998-06-01
影响因子：
9.8
通讯作者：
Rolf, B
中科院分区：
文献类型：
--
作者：
Brinkmann, B;Klintschar, M;Rolf, B
在9个短串联重复序列（STR）位点的10844次亲子等位基因传递中，观察到23个孤立的STR不匹配情况。在这些案例中，每一个的亲子关系都得到了高度验证（概率>99.97%）。这种情况总是与重复有关，要么是单步突变（n = 22），要么是双步突变（n = 1）。突变率在每代每个配子每个位点0到7×10⁻³之间。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5到6倍。观察到不间断重复次数的几何平均数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，并且一个位点上的不同等位基因表现出不同的突变率。
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 repeal 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.