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Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms

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Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms Review Article Iran J Ped Hematol Oncol. 2020, Vol 10, No 2, 114-130 Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms Hojat Shahraki MSc1, Majid Fathi MSc2, Shadi Tabibian PhD1, Omolbanin Sargazi-Aval MSc3, Hasan Mollanoori MSc4, Farhad Zaker PhD1, Shahram Teimourian PhD4, Maryam Daneshi MSc5, Akbar Dorgalaleh PhD1,* 1 - Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran 2 - Department of Medical Biotechnology, School of Allied Medicine, Iran University of Medical Sciences. Tehran- Iran 3 - Faculty of Allied Medical Sciences, Zabol University of Medical Sciences, Zabol, Iran 4 - Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran 5 - Department of laboratory sciences, School of Allied Medicine, Arak University of Medical Sciences, Arak, Iran *Corresponding author: Akbar Dorgalaleh, PhD. Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran, Email: [email protected]. ORCID ID: 0000-0002-0125- 9319 Received: 18 May 2019 Accepted: 20 February 2020 Abstract Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutation detection is the standard method for confirmation of the disorder, but indirect molecular diagnosis can be used as a fast and cost-benefit choice. In the present study, we described indirect molecular methods for molecular diagnosis of congenital FXIII deficiency. Materials and Methods: For this study, a comprehensive literature review was performed on PubMed, Embase, Web of Science, and Scopus databases using the following keywords: “indirect molecular diagnosis” with “rare bleeding disorder”, “coagulation factor XIII/13 deficiency”, “prenatal diagnosis” “rare bleeding disorder”, “molecular diagnosis”, “factor XIII/13 deficiency”, “indirect molecular diagnosis” “carrier detection”, and “factor XIII/13”. These words were used separately and in combination with each other. Results: A total of 293 papers were founded, among them 67 papers were selected for the study. Indirect molecular diagnostic approach can be done using candidate microsatellites and single nucleotide polymorphisms Downloaded from ijpho.ssu.ac.ir at 0:40 IRST on Wednesday October 6th 2021 (SNP). This method can be used for prenatal diagnosis and carrier detection, especially in the areas with low economic resources. Polymorphic genetic markers associated with F13 gene like HumFXIII01, HumFXIIIA02, HumFXIIIB, rs7740009, and rs3024405 SNPs can be used for indirect molecular diagnosis of congenital FXIII deficiency. Finally, by comparing patient’s polymorphic markers with healthy individuals, diagnosis can be made. Conclusion: It seems that indirect molecular diagnosis is a relatively reliable and cost-effective method for diagnosis of congenital FXIII deficiency in the areas with low economic resources. Key words: Factor XIII deficiency, Molecular Diagnostic Techniques, Microsatellite Repeats, Polymorphism Introduction and a carrier (FXIII-B2) (3, 4). FXIII-A is Coagulation factor XIII (FXIII) or fibrin produced by megakaryocytes, mast cells, stabilizing factor is a protein with an platelets, and macrophages, while FXIII-B essential role in the coagulation system, is only produced by hepatocytes (5). F13A wound healing, angiogenesis, and and F13B genes are located in the pregnancy maintenance (1, 2). FXIII is a chromosomal locations of 6p24-25 and transglutaminase that circulates in the 1q31-32.1, respectively (6, 7). FXIII-A blood stream as a heterotetramer (FXIII- subunit has two important regions: A2B2) and consists of two subunits; activation peptide and catalytic core. namely an enzymatic subunit (FXIII-A2) Shahraki et al Hence FXIII-A can be considered as the studies were evaluated in order to find main FXIII subunit (8, 9). potentially relevant studies. These words FXIII deficiency is an autosomal recessive were used separately and in combinations rare bleeding disorder (RBD) with a with each other. To avoid losing relevant prevalence of one per 2 million in the information, no limitations were set in the general population (10, 11). FXIII search. deficiency is accompanied by a wide range of clinical manifestations, including Results intracranial hemorrhage (ICH), delayed In the present research, 293 studies had wound healing, recurrent miscarriages, and been found in initial search and 87 articles umbilical cord bleeding (UCB) (12, 13). were excluded due to duplication. The UCB with a prevalence of >80% is the abstracts of all remaining papers were most common presentation, while ICH is carefully assessed, 122 further articles the main cause of morbidity and mortality were excluded due to using indirect (13, 14). About 80% of FXIII deficiency molecular diagnosis of unrelated disorders, related deaths are attributed to ICH (15). being guidelines, or being non-English The disorder is more common in the areas articles. By careful screening of all 84 with a high rate of consanguineous remaining studies, 17 articles on molecular marriages, such as Sistan and Baluchestan diagnosis of other inherited bleeding Province in southeast Iran (14, 16, 17). disorders and unrelated disorders were Routine coagulation tests are normal in excluded. Finally, after filtering 67 studies FXIII deficiency (18). The most common were selected (Figure 1). diagnostic test for the disorder is clot solubility test, but it is not further Structure, function, and activation recommended by the experts (19, 20). FXIII activity is recommended as first-line of FXIII screening test for FXIII deficiency (21). FXIII protein with 731 amino acids is Confirmation of the disorder can be done encoded by a 160 kb gene located on the by molecular analysis of F13A and F13B petite arm of chromosome 6 (6p24-25). genes (22, 23). Although the method of The protein has an activation peptide choice is direct sequencing of the genes, (residues 1-37) and 4 different domains, indirect molecular diagnosis is a fast and including β-sandwich (residues 38-183), Downloaded from ijpho.ssu.ac.ir at 0:40 IRST on Wednesday October 6th 2021 cost-effective alternative method. The aim central domain or catalytic core (residues of the current study was to describe 184-515), β-barrel 1 (residues 516-627), indirect molecular diagnosis of congenital and β-barrel 2 (residues 628-731) (Figure FXIII deficiency using selected 2) (1, 5). polymorphic genetic markers. The FXIII-B is known as the regulatory subunit of FXIII-A2B2 and acts as a Materials and Methods transporter of FXIII-A subunit. A systematic search was performed on Hepatocytes are exclusive producers of PubMed, Embase, Web of Science, and FXIII-B subunit. The F13B gene with 28 Scopus databases using the following Kb length and 12 exons is located on the keywords: “indirect molecular diagnosis” chromosomal region of 1q31-32.1. The with “rare bleeding disorder”, “coagulation F13B gene encoded a protein consists of factor XIII/13 deficiency”, “prenatal 641 amino acids that has 10 similar diagnosis” “rare bleeding disorder”, repeated parts named Sushi domains or “molecular diagnosis”, “factor XIII/13 Glycoprotein I (GP-I). Different studies deficiency”, “indirect molecular diagnosis” have shown that FXIII-B subunit enhances “carrier detection”, and “factor XIII/13”. FXIII-A subunit stability and resistance In addition, the references to all retrieved against proteinases (1, 2) (Table I). Iran J Ped Hematol Oncol. 2020, Vol 10. No 2, 114-130 115 Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms Coagulation Factor II (thrombin) is vital a. Mixing study for detection of for early activation of FXIII. Therefore, at neutralizing antibodies first step, thrombin interacts with FXIII-A b. Binding assay for detection of subunit and cleaves arginine 37 and non-neutralizing antibodies glycine 38 bond at the activation peptide 4. Sodium dodecyl sulfate- N-terminal that separates activation polyacrylamide gel electrophoresis peptide from FXIII-A subunit. Then, in the (SDS-PAGE) presence of calcium, separation of FXIII-B 5. Molecular studies for confirmation subunit from FXIII-A subunit is occurred of FXIII deficiency (Figure 3). After FXIII activation, Although this algorithm is a standard substrate is required for preceding the diagnostic protocol, it is not applicable in reaction. Fibrin is one of main substrates all countries (21, 23). of FXIII and high concentrations of fibrin will reinforce the activation process of Molecular diagnosis of factor XIII FXIII after recruitment of thrombin and deficiency calcium (3). FXIII is a member of Direct molecular diagnosis transglutaminase family so it aggregates In most developed countries, direct fibrins by lysyl epsilon iso-peptide bond molecular diagnosis is commonly used (gamma_glutamyl) between a lysine amino (25). This method can be done by direct acid of one fibrin monomer and a sequencing of F13A and F13B genes. glutamine residue of another fibrin Sanger sequencing is the most common monomer. These cross-linkages will DNA sequencing
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