Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

Factor XIII, B Subunit

Alternative Names glutamyl-epsilon-lysine cross-linking between fibrin F13B molecules, thus rendering the fibrin clot chemically Fibrin Stabilizing Factor, B Subunit and mechanically more stable as well as resistant to FSF, B Subunit fibrinolysis. Therefore, plasma FXIII plays an Factor XIII, B Subunit, Deficiency of important role in wound healing and tissue repair, and it is essential to maintaining pregnancy. Record Category Gene locus Factor XIII deficiency is an inherited hemorrhagic disease characterized by a lifelong bleeding tendency WHO-ICD and abnormal wound healing in affected patients and N.B.: Classification not applicable to gene loci. spontaneous abortion in female patients. This disease had been classified by the presence or absence of Incidence per 100,000 Live Births antigens into two categories: type I, characterized by N/A to gene loci the lack of both A- and B-subunits; and type II, characterized by the lack of A-subunit alone. OMIM Number Recently, it is proposed a new classification of factor 134580 XIII deficiency at DNA level: XIIIA (former type II deficiency) and XIIIB deficiency (former type I Mode of Inheritance deficiency), and a possible combined deficiency of Autosomal recessive (1q31.2-q32.3) XIIIA and XIIIB.

Gene Map Locus Molecular Genetics 1q31-q32.1 The F13B gene is located on the long arm of chromosome 1 at 1q31-q32.1 and spans Description approximately 28 kb of genomic DNA with a coding The F13B gene encodes the B subunit of the sequence consisting of 12 exons interrupted by 11 coagulation factor XIII (FXIII). FXIII is the last introns. The 12 exons in the gene range in size from zymogen to become activated in the blood 64 to 222 base pairs, while the introns range in size coagulation cascade. It circulates in blood as a from 87 to 9970 nucleotides and made up 92% of the heterotetramer composed of two A- and two B- gene. This gene is expressed in the liver encoding the subunits that are non-covalently associated, B subunit of plasma FXIII. The B subunit is designated as A2B2. The A subunits have enzymatic composed of 641 amino acids divided into 10 tandem function. The B subunits, which are non-catalytic, repeats of about 60 amino acids each, which are serve a carrier function to stabilize the A-subunit in called GPI structures, short consensus repeats (SCR) the aqueous environment of human plasma. FXIII is or Sushi domains. Each Sushi domain is encoded by activated by cleavage of the peptide bond between a single exon. The function of these domains has yet Arg37 and Gly38 of the A-subunit by thrombin to be fully established although they are thought to followed by subsequent dissociation of the B-subunit serve mainly as protein-binding module. The B- from the A-subunit in the presence of calcium ions, subunit has been shown to be highly polymorphic. yielding the active FXIII enzyme (FXIIIa) composed of 2 activated A subunits. FXIIIa acts as a Epidemiology in the Arab World transglutaminase to catalyze the formation of gamma- Egypt

Klintschar et al. (1998) conducted amplification of polymerase chain reaction (PCR) on blood samples the short tandem repeat systems (STRs) HumvWA, from 100 unrelated Yemenites and 100 unrelated HumFXIIIB, and HumFES/FPS using a triplex Egyptians. The observed heterozygosity rates in polymerase chain reaction (PCR) on blood samples Yemen were 0.84 (vWA), 0.73 (FXIIIB), and 0.81 from 100 unrelated Yemenites and 100 unrelated (FES). No significant differences were found Egyptians. The observed heterozygosity rates in between the two Arab populations. No evidence of Egypt were 0.72 (vWA), 0.83 (FXIIIB), and 0.80 linkage disequilibrium between any of the three STRs (FES). No significant differences were found tested was found [See also: Egypt > Klintschar et al., between the two Arab populations. No evidence of 1998]. linkage disequilibrium between any of the three STRs tested was found [See also: Yemen > Klintschar et al., References 1998]. Klintschar M, Al-Hammadi N, Lux T, Reichenpfader B. Genetic variation at the short tandem repeat loci Libya HumvWA, HumFXIIIB, and HumFES/FPS in the In 1989, Sebetan and Azadeh determined FXIIIB Egyptian and Yemenian populations. J Forensic Sci. phenotypes in neuraminidase-pretreated serum 1998; 43(4):850-3. PMID: 9670510 samples by using isoelectric focusing in ultrathin- Sebetan IM, Azadeh B. Genetic polymorphism of the layer polyacrylamide gels containing 1 M urea and B subunit of coagulation factor XIII in Libyans: subsequent immunoblotting. In a Libyan population occurrence of a fourth common allele, FXIIIB*6. Z sample from Tripoli (n = 108), Sebetan and Azadeh Rechtsmed. 1989; 103(2):125-8. PMID: 2609788 (1989) recognized nine different phenotypes as products of four common alleles with frequencies as Related CTGA Records follows: FXIIIB*1 = 0.6574, FXIIIB*2 = 0.2454, N/A FXIIIB*3 = 0.0741 and FXIIIB*6 = 0.0231. FXIIIB*6 was found in homozygous form as well as External Links in heterozygous conditions with FXIIIB*1 and http://ghr.nlm.nih.gov/locuslink=2165 FXIIIB*3. Sebetan and Azadeh (1989) suggested that http://www.genecards.org/cgi- FXIIIB*6 is the fourth common allele of the FXIIIB bin/carddisp.pl?gene=F13b system in this population. http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&c md=retrieve&list_uids=2165 Qatar See Libya > Sebetan and Azadeh, 1989 Contributors Pratibha Nair: 10.5.2011 Yemen Pratibha Nair: 5.5.2009 Klintschar et al. (1998) conducted amplification of Ghazi O. Tadmouri: 20.4.2009 the short tandem repeat systems (STRs) HumvWA, Tasneem Obeid: 13.8.2008 HumFXIIIB, and HumFES/FPS using a triplex