The factor IX gene as a model for analysis of human germline mutations: An update

Steve S. Sommer, Rhett P. Ketterling

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


The variation generated by germline mutation is essential for evolution, but individuals pay a steep price in the form of Mendelian disease and genetic predisposition to complex disease. Indeed, the health of a species is determined ultimately by the rate of germline mutation. Analysis of the factor IX gene in patients with hemophilia B has provided insights into the human germline mutational process. Herein, seven topics will be reviewed with emphasis on recent advances: (i) proposed mechanisms of deletions, inversions, and insertions; (ii) discordant sex ratios of mutation and associated age effects; (iii) somatic mosaicism; (iv) founder effects; (v) mutation rates; (vi) the factor IX gene as a germline mutagen test; and (vii) cancer as a possible mechanism for maintaining a constant rate of germline mutation.

Original languageEnglish (US)
Pages (from-to)1505-1514
Number of pages10
JournalHuman molecular genetics
Issue numberREVIEW
StatePublished - 1996

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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