The human factor VII gene is polymorphic due to variation in repeat copy number in a minisatellite.
The gene coding for human factor VII, a vitamin K-dependent coagulation factor, contains five minisatellite imperfect tandem repeats with monomer element lengths ranging from 14 to 37 bp, and copy numbers ranging from 6 to 52. Three of these repeats are entirely within introns, one is entirely in an untranslated portion of an exon, and one spans an exon-intron border and contains coding sequence. A consensus sequence derived from a comparison of the monomers is similar to a core sequence found in other minisatellites. All of the minisatellites display higher-order periodicities. At least one of these minisatellites is polymorphic. A variation in repeat copy number has been observed in a tandem-repeat region in the seventh factor-VII intron.
O'Hara
P J
PJ
ZymoGenetics, Inc., Seattle, WA 98103.
Grant
F J
FJ
D000818:Animals; D010582:Bacteriophage lambda / Q000235:genetics; D001483:Base Sequence; D003001:Cloning, Molecular; D003434:Crossing Over, Genetic; D004276:DNA, Satellite; D005091:Exons; D005167:Factor VII / Q000235:genetics*; D006801:Humans; D007256:Information Systems; D007438:Introns; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D012984:Software; D013045:Species Specificity
D004276:DNA, Satellite; D005167:Factor VII