Assessing Gene Expression of Factor XIII-A1 in Iraqi Patients with FXIII Deficiency | ||||
| Journal of Bioscience and Applied Research | ||||
| Volume 10, Issue 1, March 2024, Page 103-110 PDF (1.02 MB) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/jbaar.2024.268467.1038 | ||||
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| Authors | ||||
Murtadha Adil Al shami   1; Asmaa Mohammed Saud2
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| 1- Biotechnology department, College of Science / University of Baghdad. - College of Biotechnology, Al-Nahrain University | ||||
| 2Biotechnology Department, College of Science, University of Baghdad | ||||
| Abstract | ||||
| Coagulation factor XIII (FXIII) circulates in plasma as a pro-transglutaminase heterotetrameric complex (FXIIIA2B2), which upon activation by thrombin and calcium covalently crosslinks preformed fibrin polymers. The heterotetrameric complex is composed of a catalytic FXIIIA2 subunit and a protective/regulatory FXIII-B2 subunit coded by F13A1 and F13B genes, respectively. The study aimed to assess the level of expression of the FXIII-A gene in seven Iraqi families affected with FXIII deficiency. Samples of whole blood were collected from seven Iraqi families that were characterized with F13 deficiency register in the Hemophilia Ward, Children Welfare Teaching Hospital, Medical City, Baghdad. These samples were divided into three groups according to the genotype, which included affected homozygous recessive and heterozygous with control healthy group. RNA was isolated from whole blood samples and gene expression levels of the F13 A1 gene was determined using quantitative Real-Time polymerase chain reaction (RT-qPCR), the result revealed that the expression levels of the F13A gene in heterozygous parents were significantly increased compared with the homozygous affected and control group. The (ROC) curve was analyzed in this study to determine the optimal cut-off value for F13 expression and showed a very good predictor for FXIII deficiency diagnosis with "Area under the ROC Curve." AUC equals 0.844 and p< 0.001. | ||||
| Keywords | ||||
| Rare Bleeding Disorder; Coagulation factor; Factor XIII deficiency; Gene expression | ||||
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