Factor XII Gene Alteration in Hageman Trait Detected by TaqI Restriction Enzyme

• Published in: Blood 1987-05, Vol.69 (5), p.1421-1424
• Main Authors: BERNARDI, F, MARCHETTI, G, PANICUCCI, F, CONCONI, F, PATRACCHINI, P, DEL SENNO, L, TRIPOLI, M, FANTONI, A, BARTOLAI, S, VANNINI, F, FELLONI, L, ROSSI, L
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Collodion; Electrophoresis, Polyacrylamide Gel; Factor XII - genetics; Factor XII Deficiency - diagnosis; Factor XII Deficiency - genetics; Genetic Carrier Screening; Hematologic and hematopoietic diseases; Humans; Male; Medical sciences; Partial Thromboplastin Time; Pedigree; Platelet diseases and coagulopathies; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V69.5.1421.1421

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. © 1987 by Grune & Stratton, Inc. 0006-4971/87/6905-0023$3.00/0