TY - JOUR
T1 - The factor IX gene as a model for analysis of human germline mutations
T2 - An update
AU - Sommer, Steve S.
AU - Ketterling, Rhett P.
PY - 1996
Y1 - 1996
N2 - 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.
AB - 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.
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U2 - 10.1093/hmg/5.supplement_1.1505
DO - 10.1093/hmg/5.supplement_1.1505
M3 - Review article
C2 - 8875257
AN - SCOPUS:0029790560
SN - 0964-6906
VL - 5
SP - 1505
EP - 1514
JO - Human molecular genetics
JF - Human molecular genetics
IS - REVIEW
ER -