Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.

We have performed formal genetic studies on 26 patients (14 males, 12 females) with neurofibromatosis 1 (von Recklinghausen's disease, NF1) in Japan. Family studies of 74 members of 18 kindreds revealed that 50% of the cases were caused by a new mutation; the mutation rate was assumed to be 7.3-10.5 x 10(-5). A tendency of paternal age effect, which was not accounted for by the maternal age effect, was observed, but live-birth order had no significant effect. Genetic linkage of neurofibromatosis 1 to the NF1 gene or the genetic marker in the pericentric region of chromosome 17 was established in 3 informative families.
AuthorsT Takano, T Kawashima, Y Yamanouchi, K Kitayama, T Baba, K Ueno, H Hamaguchi
JournalHuman genetics (Hum Genet) Vol. 89 Issue 3 Pg. 281-6 (May 1992) ISSN: 0340-6717 [Print] GERMANY
PMID1351032 (Publication Type: Journal Article)
  • Age Factors
  • Asian Continental Ancestry Group (genetics)
  • Chromosomes, Human, Pair 17
  • Female
  • Genes, Neurofibromatosis 1 (genetics)
  • Genetic Linkage (genetics)
  • Humans
  • Japan (epidemiology)
  • Male
  • Maternal Age
  • Mutation (genetics)
  • Neurofibromatosis 1 (epidemiology, genetics)
  • Paternal Age
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Sex Ratio

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