Gly222Asp and Ser379Lys — Novel Factor X Gene Mutations in severe FX Deficiency — Greifswald Registry of Factor X congenital Deficiency

2003 ◽  
pp. 49-57
Author(s):  
F. H. Herrmann ◽  
K. Wulff ◽  
S. Lopaciuk ◽  
H. Pollmann
Keyword(s):  
Gene Mutations ◽  
Factor X ◽  
Congenital Deficiency ◽  
X Gene

Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage

2005 ◽  
Vol 146 (1) ◽  
pp. 128-130 ◽  
Author(s):  
Falko H. Herrmann ◽  
Marta Navarette ◽  
Lizbeth Salazar-Sanchez ◽  
Juan M. Carillo ◽  
Guenter Auerswald ◽  
...  
Keyword(s):  
Intracranial Hemorrhage ◽  
Gene Mutations ◽  
Factor X ◽  
X Gene

POLYMORPHIC SITES IN FACTOR X GENE

1987 ◽  
Author(s):  
C Chelucci ◽  
H J Hassan ◽  
R Guerriero ◽  
A Leonardi ◽  
G Mattia ◽  
...  
Keyword(s):  
Genomic Dna ◽  
Gene Locus ◽  
Cdna Probe ◽  
Normal Subjects ◽  
Restriction Pattern ◽  
Factor X ◽  
Congenital Deficiency ◽  
Restriction Sites ◽  
X Gene ◽  
Polymorphic Restriction

The structure of factor X gene has been analyzed by Southern blot in 5 subjects with factor X deficiency.Genomic DNA was digested with 8 different endonucleases and hybridized with a cDNA probe. The congenital deficiency observed in these patients is not apparently due to a major deletion or rearrangement. Since the gene locus is grossly intact, the disease presumably results from point mutation(s) not identified by the utilized endonucleases.Our study was also focused on the presence of polymorphic site(s) in the factor X gene locus. Analysis of 50 normal subjects allowed to identify several polymorphic restriction sites after digestion with EcoRI, Hind III and Pvu II.The restriction pattern obtained after Hind III digestion showed two bands of 7.3 and 6.0 Kb, while in two families an additional 7.6 Kb band was observed. Genomic DNA digested with EcoRI showed a 7.1 and 5.1 Kb fragments, and also a 6.6 Kb band with a 10% f requency.After DNA digestion with Pvu II 5.6, 2.7 and ∼1.0 Kb bands were observed. In three unrelated subjects we observed an additional 3.0 Kb fragment, in two other subjects a 3.5 kb band. Interestingly hybridization with a 178 bp cDNA subclone allowed to map the polymorphic sites in a the 3’ region of the gene locus.

Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency

2016 ◽  
Vol 27 (3) ◽  
pp. 324-327 ◽  
Author(s):  
Akbar Dorgalaleh ◽  
Farhad Zaker ◽  
Shadi Tabibian ◽  
Shaban Alizadeh ◽  
Saeed Dorgalele ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Factor X ◽  
Factor X Deficiency ◽  
X Gene ◽  
Iranian Patients ◽  
Congenital Factor

Two novel factor X gene mutations in a Chinese family with factor X deficiency

2004 ◽  
Vol 83 (5) ◽  
pp. 304-306 ◽  
Author(s):  
W. Y. Au ◽  
C. C. K. Lam ◽  
W. C. Cheung ◽  
Y. L. Kwong
Keyword(s):  
Gene Mutations ◽  
Chinese Family ◽  
Factor X ◽  
Factor X Deficiency ◽  
X Gene

Conformation sensitive gel electrophoresis for detection of factor X gene mutations

2002 ◽  
Vol 107 (1-2) ◽  
pp. 51-54 ◽  
Author(s):  
Fabrizio Vianello ◽  
Anna Maria Lombardi ◽  
Federico Dal Bello ◽  
Ezio Zanon ◽  
Laura Cabrio ◽  
...  
Keyword(s):  
Gel Electrophoresis ◽  
Gene Mutations ◽  
Factor X ◽  
X Gene

One Missense Mutation in the Factor X Gene Causing Factor X Deficiency—Factor X Kanazawa

2001 ◽  
Vol 73 (3) ◽  
pp. 390-392 ◽  
Author(s):  
Eriko Morishita ◽  
Kazuo Yamaguchi ◽  
Hidesaku Asakura ◽  
Masanori Saito ◽  
Masahide Yamazaki ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Factor X ◽  
Factor X Deficiency ◽  
X Gene

scholarly journals Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343

Blood ◽  
1991 ◽  
Vol 77 (2) ◽  
pp. 317-323 ◽  
Author(s):  
HL James ◽  
A Girolami ◽  
DS Fair
Keyword(s):  
Point Mutation ◽  
Serine Proteases ◽  
Direct Sequencing ◽  
Coagulation Factor ◽  
Amino Acid Position ◽  
Molecular Defect ◽  
Nucleotide Position ◽  
Factor X ◽  
Gene Coding ◽  
X Gene

Abstract Our previous findings suggested that coagulation factor XFriuli could be functionally defective owing to a point mutation in the portion of the factor X gene coding for the fully activated heavy chain. To verify the existence of this postulated change, we analyzed all eight exons of the normal and Friuli factor X gene. Each exon was amplified from genomic DNA using the polymerase chain reaction and cloned into the plasmid pUC19. The amplified DNA inserts were subjected to direct sequencing by the dideoxy chain termination method with forward and reverse oligonucleotide sequencing primers. A point mutation (C to T transition at nucleotide position 19,297) that results in coding for serine (TCC) in place of proline (CCC) at amino acid position 343 was found. This substitution involves a highly conserved proline residue oriented spatially close to both the cleavage site of the zymogen and the active site of the enzyme and explains the previous observations of discrete biochemical and functional differences between factor XFriuli and normal factor X. The mutation abolished an HgiCI restriction site present in the normal factor X gene, and this change constitutes the basis for a convenient method for screening individuals carrying this molecular defect. Proline343 is in conserved region 5 of the serine protease superfamily to which factor X belongs and is part of a 14- residue L*****P******C motif that occurs in at least 16 other enzymes. Computer analysis suggests that the motif may be an essential aspect of conformational features important to functional properties of factor X as well as other serine proteases.

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