Germ line origins of de novo mutations in hemophilia B families

Hum Genet. 1994 Sep;94(3):299-302. doi: 10.1007/BF00208288.


The germ line of origin for 13 of 14 de novo hemophilia B mutations has been determined. When added to previous reports, the origin, assuming no mosaicism, occurred in 43 female and 33 male gametes. Mutation rate estimates are twofold higher in males than in females. The pooled data also indicate that male and female germ lines have different mutation rates depending upon the type of mutation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA Mutational Analysis
  • Factor IX / genetics
  • Female
  • Genetic Carrier Screening
  • Germ-Line Mutation*
  • Hemophilia B / genetics*
  • Humans
  • Male


  • Factor IX