Ontology highlight
ABSTRACT:
SUBMITTER: Yoon SR
PROVIDER: S-EPMC2700275 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Yoon Song-Ro SR Qin Jian J Glaser Rivka L RL Jabs Ethylin Wang EW Wexler Nancy S NS Sokol Rebecca R Arnheim Norman N Calabrese Peter P
PLoS genetics 20090710 7
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 to measure the frequencies of the two causal mutations in the sperm of over 300 norma ...[more]