1. A Common Genetic Polymorphism (46 C to T Substitution) in the 5′-Untranslated Region of the Coagulation Factor XII Gene Is Associated With Low Translation Efficiency and Decrease in Plasma Factor XII Level
by Taisuke Kanaji, Takashi Okamura, Koichi Osaki, Mika Kuroiwa, Kazuya Shimoda, Naotaka Hamasaki, and Yoshiyuki Niho
Blood
Volume 91(6):
March 15, 1998
©1998 by American Society of Hematology

2. Schematic illustration of the factor XII gene and the locations and sequences of PCR primers.
Schematic illustration of the factor XII gene and the locations and sequences of PCR primers. Arrows show the location of primers. The Hga I site is shown by the broken arrow.
Taisuke Kanaji et al. Blood 1998;91:
©1998 by American Society of Hematology

3. The nucleotide sequence of 5′ end of exon 1 in the factor XII gene.
The nucleotide sequence of 5′ end of exon 1 in the factor XII gene. The polymorphic and Hga I sites are shown by arrows. Underline indicates the translation initiation codon ATG and 46 C (polymorphic site). Overline indicates Hga I recognition sequence.
Taisuke Kanaji et al. Blood 1998;91:
©1998 by American Society of Hematology

4. Hga I restriction analysis of PCR products.
Hga I restriction analysis of PCR products. (A) 2% agarose gel electrophoresis of PCR products from genomic DNA in 6 representative samples. Lanes 2 to 5 show heterozygosity for 46C/T. Lane 6 shows homozygosity for 46C. Lane 7 shows homozygosity for 46T. Undigested DNA remains as a faint 369 bp in 46C homozygotes even after a long duration of digestion. A DNA size marker (100bp ladder) was applied in lanes 1 and 8. (B) 5% polyacrylamide gel electrophoresis of RT-PCR products from liver mRNA in three genetic types for the polymorphism. Lanes 1 to 3 and 5 show heterozygosity for 46C/T. Lane 6 shows homozygosity for 46T. Lane 7 shows homozygosity for 46C. 53 bp bands digested by Hga I were barely visible in this study (not shown). A DNA size marker (100bp ladder) was applied in lane 4.
Taisuke Kanaji et al. Blood 1998;91:
©1998 by American Society of Hematology

5. Plasma levels of factor XII activity (A) and antigen (B) of individuals with 46C/C, 46C/T, or 46T/T.
Plasma levels of factor XII activity (A) and antigen (B) of individuals with 46C/C, 46C/T, or 46T/T. Thirteen Caucasians were included in C/C, 6 in C/T, and 1 in T/T group. The levels of plasma FXII activity and antigen were 150.0±30.3 (n = 20) and 155.4±36.1 (n = 20) in Caucasians, and 125.4±56.3 (n = 31) and 104.7±57.2 (n=20) in Orientals, respectively.
Taisuke Kanaji et al. Blood 1998;91:
©1998 by American Society of Hematology

6. SDS-PAGE analysis of in vitro translated products from 46C- and 46T-FXII cDNA.
SDS-PAGE analysis of in vitro translated products from 46C- and 46T-FXII cDNA. Incubation times for translation are shown in the lower portion of the panel. The arrow shows the factor XII synthesized in vitro. The experiments were repeated with essentially the same results.
Taisuke Kanaji et al. Blood 1998;91:
©1998 by American Society of Hematology