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2. Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme

Author

Bernardi, F, Marchetti, G, Patracchini, P, del Senno, L, Tripodi, M, Fantoni, A, Bartolai, S, Vannini, F, Felloni, L, and Rossi, L

Abstract

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5' portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Published
1987
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3. Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme

Author

Bernardi, F., Marchetti, G, Patracchini, P, DEL SENNO, L, Tripodi, M, Fantoni, A, Bartolai, S, Vannini, F, Felloni, L, Rossi, L, Panicucci, F, and Conconi, F

Subjects
Male, animal structures, Factor XII Deficiency, TaqI, Immunology, Coagulation Factor XII, Biochemistry, NO, Restriction fragment, chemistry.chemical_compound, Restriction map, Humans, cardiovascular diseases, Gene, Genetics, Factor XII, Polymorphism, Genetic, biology, Genetic Carrier Screening, Collodion, Cell Biology, Hematology, Molecular biology, Pedigree, Restriction enzyme, chemistry, biology.protein, Electrophoresis, Polyacrylamide Gel, Partial Thromboplastin Time, Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length, circulatory and respiratory physiology
Abstract

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5′ portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

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