Mutation analysis in F9 gene of 17 families with haemophilia B from Iran.
Seventeen haemophilia B families from Iran were investigated to determine the causative mutation. All the essential regions of the F9 gene were initially screened by conformational sensitive gel electrophoresis and exons with band shift were sequenced. Seven of the 15 mutations identified in these families were novel mutations. The mutations were authenticated in nine families as other affected members or heterozygous female carriers were available for verification.
Enayat
M S
MS
Karimi
M
M
Chana
G
G
Farjadian
S
S
Theophilus
B D M
BD
Hill
F G H
FG
D005260:Female; D006580:Genetic Carrier Screening; D002836:Hemophilia B / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree