Structural gene encoding human factor XII is located at 5q33-qter

1988 ◽  
Vol 14 (2) ◽  
pp. 217-221 ◽  
Author(s):  
N. J. Royle ◽  
M. Nigli ◽  
D. Cool ◽  
R. T. MacGillivray ◽  
J. L. Hamerton
Keyword(s):  
Structural Gene ◽  
Human Factor ◽  
Factor Xii ◽  
Gene Encoding

scholarly journals Screening for Plasminogen Mutations in Hereditary Angioedema Patients

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 402
Author(s):  
Henriette Farkas ◽  
Anna Dóczy ◽  
Edina Szabó ◽  
Lilian Varga ◽  
Dorottya Csuka
Keyword(s):  
Gene Mutation ◽  
Hereditary Angioedema ◽  
Unknown Origin ◽  
Factor Xii ◽  
Gene Encoding ◽  
New Techniques ◽  
Ex Post ◽  
Appropriate Therapy ◽  
Exon 9 ◽  
Serping1 Gene

Hereditary angioedema (HAE) is a rare disease belonging to the group of bradykinin-mediated angioedemas, characterized by recurring edematous episodes involving the subcutaneous and/or submucosal tissues. Most cases of HAE are caused by mutations in the SERPING1 gene encoding C1-inhibitor (C1-INH-HAE); however, mutation analysis identified seven further types of HAE: HAE with Factor XII mutation (FXII-HAE), with plasminogen gene mutation (PLG-HAE), with angiopoietin-1 gene mutation (ANGPT1-HAE), with kininogen-1 gene mutation (KNG1-HAE), with a myoferlin gene mutation (MYOF-HAE), with a heparan sulfate-glucosamine 3-sulfotransferase 6 (HS3ST6) mutation, and hereditary angioedema of unknown origin (U-HAE). We sequenced DNA samples stored from 124 U-HAE patients in the biorepository for exon 9 of the PLG gene. One of the 124 subjects carried the mutation causing a lysine to glutamic acid amino acid exchange at position 330 (K330E). Later, the same PLG mutation was identified in the patient’s son. The introduction of new techniques into genetic testing has increased the number of genes identified. As shown by this study, a biorepository creates the means for the ex-post analysis of recently identified genes in stored DNA samples of the patients. This makes the diagnosis more accurate with the possibility of subsequent family screening and the introduction of appropriate therapy.

scholarly journals A monoclonal antibody recognizing an icosapeptide sequence in the heavy chain of human factor XII inhibits surface-catalyzed activation.

1987 ◽  
Vol 262 (21) ◽  
pp. 10140-10145
Author(s):  
R.A. Pixley ◽  
L.G. Stumpo ◽  
K. Birkmeyer ◽  
L. Silver ◽  
R.W. Colman
Keyword(s):  
Monoclonal Antibody ◽  
Heavy Chain ◽  
Human Factor ◽  
Factor Xii

Cloning and characterization of the 5' end (exon 1) of the gene encoding human factor X

Gene ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 517-519 ◽  
Author(s):  
Pudur Jagadeeswaran ◽  
Sakamuri Vijayakumar Reddy ◽  
Kavala Jayantha Rao ◽  
Kalyani Hamsabhushanam ◽  
George Lyman
Keyword(s):  
Human Factor ◽  
Factor X ◽  
Gene Encoding ◽  
Exon 1

scholarly journals Conversion of an M- group A streptococcus to M+ by transfer of a plasmid containing an M6 gene.

1986 ◽  
Vol 164 (5) ◽  
pp. 1641-1651 ◽  
Author(s):  
J R Scott ◽  
P C Guenthner ◽  
L M Malone ◽  
V A Fischetti
Keyword(s):  
Structural Gene ◽  
Human Blood ◽  
Group A Streptococcus ◽  
M Protein ◽  
Gene Encoding ◽  
Hyperimmune Serum ◽  
Amino Terminal ◽  
Group A ◽  
Hyperimmune Rabbit ◽  
Streptococcal Strain

An M28-derived group A streptococcal strain deleted for the gene encoding M protein was converted to M+ by introduction of a plasmid carrying emm6, the structural gene for type 6 M protein from strain D471. The reconstituted M+ strain, JRS2, resists phagocytosis in human blood and is opsonized by anti-M6 hyperimmune serum, but not by anti-M28 serum. Immunofluorescent microscopy and ELISA demonstrate the presence of M protein on its surface. In addition, JRS2 removes opsonic antibodies from hyperimmune rabbit sera generated by immunization with purified ColiM6 protein and with a synthetic amino-terminal peptide derived from M6. Immunization of rabbits with JRS2 generates opsonic anti-M6 antibodies. These results indicate that the cloned emm6 gene contains the information necessary to convert a phagocytosis-sensitive streptococcus to phagocytosis resistance. Furthermore, it also contains the determinants for M type specificity and those required to elicit opsonic antibodies. It thus appears to determine all the traits associated with M protein.

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