Article
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.
PLoS genetics - 1 Jul 2009
Yoon Song-Ro, Qin Jian, Glaser Rivka L, Jabs Ethylin Wang, Wexler Nancy S, Sokol Rebecca, Arnheim Norman, Calabrese Peter
Abstract excerpt
Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age effect), and this increase is greater than what would be expected based on the greater number of germ-line divisions in older men. We use a highly sensitive PCR assay...
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