title: Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies.
abstract: OBJECTIVE
  To evaluate the influence of aging on the achondroplasia mutation rate in the male germline.
  
  
  METHODS
  Studies in sperm and testis biopsy DNA according to donor's age.
  
  
  METHODS
  University teaching hospital.
  
  
  METHODS
  Seventeen donors aged 30 to 65 years for sperm collection and 14 deceased donors aged 53 to 95 years for testis biopsies, all with normal stature.
  
  
  METHODS
  Testes were obtained from 14 deceased donors, and sperm was obtained from 17 patients who requested ART.
  
  
  METHODS
  Real-time polymerase chain reaction quantification of the G1138A mutation in sperm and testis biopsies.
  
  
  RESULTS
  The rate of G1138A mutation did not significantly vary with age in sperm, whereas in testis biopsies it increased markedly past the age of 70 years. Moreover, and for the first time, a mosaic for this mutation was detected in the testis of three subjects who were >80 years of age.
  
  
  CONCLUSIONS
  These findings could contribute to providing a molecular explanation for the increased incidence of achondroplastic offspring with advanced paternal age.
authors: Unité de Pathologie Cellulaire et Génétique, Université Versailles Saint-Quentin, Faculté de Médecine Paris-Ile-de-France-Ouest and Centre Hospitalier de Poissy-Saint Germain, Poissy, France. dakouane@hotmail.com
authors: Mbarka
authors: M
authors: Dakouane Giudicelli
authors: Valerie
authors: V
authors: Serazin
authors: Christelle Rouillac
authors: CR
authors: Le Sciellour
authors: Martine
authors: M
authors: Albert
authors: Jacqueline
authors: J
authors: Selva
authors: Yves
authors: Y
authors: Giudicelli
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D000225:Adenine; D000328:Adult; D000368:Aged; D001706:Biopsy; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005787:Gene Frequency; D006147:Guanine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012313:RNA / Q000235:genetics; D012016:Reference Values; D015203:Reproducibility of Results; D015183:Restriction Mapping; D013737:Testis / Q000166:cytology / Q000473:pathology*
chemical_list: D006147:Guanine; D012313:RNA; D004247:DNA; D000225:Adenine