caa a22 4500 397575181 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.Supplement_1.1505 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.Supplement_1.1505 The factor IX gene as a model for analysis of human germline mutations: an update [Elektronische Daten] [Steve S. Sommer, Rhett P. Ketterling] 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. © 1996 Oxford University Press Sommer Steve S. Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, MN 55905 USA aut Ketterling Rhett P. Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, MN 55905 USA aut Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1505-1514 0964-6906 5:Supplement_1<1505 1996 5 hmg https://doi.org/10.1093/hmg/5.Supplement_1.1505 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.Supplement_1.1505 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sommer Steve S. Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, MN 55905 USA aut NATIONALLICENCE 700 1- Ketterling Rhett P. Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, MN 55905 USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1505-1514 0964-6906 5:Supplement_1<1505 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford