The origins patterns and implications of human spontaneous mutation

被引:631
作者
Crow, JF [1 ]
机构
[1] Univ Wisconsin, Dept Genet, Madison, WI 53706 USA
关键词
D O I
10.1038/35049558
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The germline mutation rate in human males, especially older males, is generally much higher than in females, mainly because in males there are many more germ-cell divisions. However, there are some exceptions and many variations. Base substitutions, insertion-deletions, repeat expansions and chromosomal changes each follow different rules. Evidence from evolutionary sequence data indicates that the overall rate of deleterious mutation may be high enough to have a large effect on human well-being. But there are ways in which the impact of deleterious mutations can be mitigated.
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页码:40 / 47
页数:8
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