Abstract
The polymorphism is located within exon 5 of the human coagulation factor VII gene and is silent at the amino acid level. The distribution pattern is similar in Caucasians and African Americans. This polymorphism may be useful for restriction fragment length polymorphism (RFLP) diagnosis of factor X deficiency as well as factor VII deficiency, since the factor X gene is closely linked to the factor VII locus.
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Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S (1991) A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Artherioscler Thromb 11:540–546.
Grouchy J de, Dautzenberg M-D, Turleau C, Beguin S, Chavin-Colin F (1984) Regional mapping of clotting factors VII and X to 13q34: expression of factor VII through chromosome 8. Hum Genet 66:230–233.
Leytus SP, Foster DC, Kurachi K, Davie EW (1986) Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C. Biochemistry 25:5098–5102.
Marchetti G, Gemmati D, Patracchini P, Pinotti M, Bernardi F (1991) PCR detection of a repeat polymorphism within the F7 gene. Nucleic Acids Res 19:4570.
Miao CH, Leytus SP, Chung DW, Davie EW (1992) Liver-specific expression of the gene coding for human factor X, a blood coagulation factor. J Biol Chem 267:7395–7401.
O'Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ (1987) Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA 84:5158–5162.
Wallmark A, Rose VL, Ho C and High KA (1991) A NlaIV polymorphism within the human factor X gene. Nucleic Acids Res 19:4022.
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Chaing, S.H., Wallmark, A., Berntorp, E. et al. A NlaIII polymorphism within the human factor VII gene. Hum Genet 93, 722–723 (1994). https://doi.org/10.1007/BF00201584
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DOI: https://doi.org/10.1007/BF00201584