MUTATION OF HUMAN SHORT TANDEM REPEATS
MUTATION OF HUMAN SHORT TANDEM REPEATS
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DOI：
10.1093/hmg/2.8.1123
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发表时间：
1993-08-01
影响因子：
3.5
通讯作者：
WONG, C
中科院分区：
文献类型：
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作者：
WEBER, JL;WONG, C
通过对位于19号染色体上的28个短串联重复多态性（STRP）在40个CEPH参考家系内进行基因分型，共检测了20,000次等位基因的亲代 - 子代传递。利用转化的淋巴母细胞系的DNA在STRP中检测到47个初始突变事件，但使用未转化细胞的DNA只能验证不到一半（39%）。在单个个体中观察到三个等位基因的情况，使用未转化细胞的DNA均无法验证。在对作为孟德尔错误无法检测到的事件进行校正后，19号染色体STRP的平均突变率为每代每个配子每个位点1.2×10⁻³。这个比率可能因体细胞事件而非生殖细胞事件而被高估。单个STRP的观测突变率范围从0到8×10⁻³。四核苷酸STRP的平均突变率几乎是二核苷酸STRP平均突变率的四倍。为了确定突变模式，还检查了涉及其他染色体上STRP的事件。在使用未转化淋巴细胞的DNA验证的事件中，或者在那些可能无法获得未转化细胞DNA的事件中：没有一个位于减数分裂重组位点，91%涉及单个重复单元的增加或减少，并且15个发生在男性生殖系中，而女性生殖系中为4个（p = 0.01）。
A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be verified using DNA from untransformed cells. None of the cases where three alleles were observed in a single individual could be verified using DNA from untransformed cells. The average mutation rate for the chromosome 19 STRPs after correction for events which would not be detectable as Mendelian errors was 1.2 x 10(-3) per locus per gamete per generation. This rate may have been inflated by somatic as opposed to germline events. Observed mutation rates for individual STRPs ranged from 0 to 8 x 10(-3). The average mutation rate for tetranucleotide STRPs was nearly four times higher than the average rate for dinucleotide STRPs. For determination of the mode of mutation, events involving STRPs on other chromosomes were also examined. Of the events which were verified using DNA from untransformed lymphocytes or which were likely among those for which DNA from untransformed cells was not available: none were located at the sites of meiotic recombination, 91% involved the gain or loss of a single repeat unit, and 15 occurred in the male germline compared to 4 in the female germline (p = 0.01).