Abla Z, Mouloud Y, Hejer El, Emna G, Abdi Meriem A, Ouarhlent Yamina O, Naouel S. 2018. Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene. Biodiversitas 19: 52-58. Hemophilia B (HB) (also known as Christmas disease; Christmas is the family name of the first patient.) is an X linked recessive hemorrhagic disorder caused by mutations in factor 9 (F9: is used for the gene) gene that leads to deficient or defective coagulation factor IX (FIX: is used for the protein). The variable phenotype of HB results from wide range of mutations affecting the F9 gene. Our study was aimed at molecular analysis of HB to identify the causative mutation in known patients with HB in a part of Algeria. For genotyping, polymerase chain reaction (PCR) and direct sequencing have been applied to all the essential regions of the F9 gene from 39 Algerian HB patients belonging to 13 unrelated families. We identified 10 different mutations. The identified mutations included 1 duplication and 9 substitutions. In total 9 point mutations were identified, of which 5 are located in exon 8, the hotspot region in the F9 gene. Among the 10 mutations, 2 are novel and not deposited in database sites nor described in recently published articles. The results of this study emphasize the heterogeneity of HB. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.

Hemophilia B is inherited as x-linked recessive disorder, carried by females, where males are affected. Rare cases of females affected with hemophilia B are known. This is also known as factor IX (FIX) deficiency, or "Christmas disease", originally named after Stephen Christmas; the first patient was described with this disease in 1952. It is characterized by spontaneous or prolonged hemorrages due to factor IX deficiency. Factor IX mutations have not been previously reported in Algerian patients. To understand the molecular basis of hemophilia B in Algeria, polymerase chain reaction (PCR) and direct sequencing have been applied to be the important regions of the factor IX gene from 11 patients; we identified 2 point mutations. Mutations identified in our patients was linked with disease severity. Complications are problems that develop during treatment of the disease. Inhibitor (alloantibodies to exogenous factor XI) development is currently the most significant treatment complication. In this study, we evaluated the relationship between inhibitor development and FIX gene mutation types. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.

No abstract

In this study, our objective is to investigate the antioxidant activity by the means of two methods: the β-carotene bleaching method and DPPH assay as well as testing the antibacterial activity by the Agar-well diffusion method, of the extracts (EEp, EDm, EMe and EAq) from the sheets of Hertia cheirifolia. The quantitative analysis are showed that the highest content of total phenolic was concentrated in the methanolic extract with 30.33 ± 2.82 μg EAG/mg of extracts, in the second level the EAq extract and EDm extract with 25.92 ± 7.19 μg EAG/mg of extracts and 21.25 ± 1.76 μg EAG/mg of extracts respectively. The content of polyphenols was determined specrophotometrically and showed the presence of these compounds in all extracts. The analysis by TLC revealed the presence of quercetin in the EMe extract of this plant. In the β-carotene bleaching test, the EMe of this plant displayed highest antioxidant activity (72.97%), than in the DPPH assay with a radical-scavenging activity (72.74%). Our results of the antibacterial activity showed the inefficiency of the whole extracts against most of the tested strains.

No abstract