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Role of P53 p.Arg72Pro Variant in Recurrent Pregnancy Loss, Recurrent Implantation Failure and IVF Outcome
Navneet Kaur,
Mohamed Eltom,
Karen Cheung,
Siddharth Banka,
Lamiya Mohiyiddeen
Issue:
Volume 8, Issue 3, September 2020
Pages:
94-101
Received:
17 June 2020
Accepted:
27 July 2020
Published:
8 September 2020
Abstract: The role of p53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome is controversial and research so far has yielded inconsistent results. This systematic review aims to summarise the literature on the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss following natural and assisted conception. A comprehensive literature search was conducted on MEDLINE, EMBASE and CENTRAL electronic databases for literature published between 1998 and April 2020. Inclusion and exclusion criteria and search terms were established. References of retrieved articles were hand searched to identify other relevant papers including conference abstracts. In total, 9 case control studies (1041 patients), 6 case control studies (382 patients) and 7 studies (3403) were included examining the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome respectively. Combined genotype frequencies suggest that there may be an association between Pro/Pro genotype and recurrent pregnancy loss and Arg/Pro genotype and recurrent implantation failure. However, the association between TP53 p.Arg72Pro variant and recurrent pregnancy loss, recurrent implantation failure or IVF outcomes has not been clearly established. In conclusion, genotyping patients for the TP53 variant may enable us to identify an aetiology for patients experiencing unexplained recurrent pregnancy loss and detect individuals at risk of recurrent implantation failure before IVF treatment is initiated. Furthermore, exploring the mechanisms of action of the p53 protein may provide us with an insight into potential treatments.
Abstract: The role of p53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome is controversial and research so far has yielded inconsistent results. This systematic review aims to summarise the literature on the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss following natural and assisted conception. A ...
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Impact of Glucose-6-phosphate Dehydrogenase Deficiency on Sickle Cell Anaemia Expression: A Case Report
Patrick Olanrewaju Osho,
Matilda Adesuwa Osagie Ojo,
Evelyn Salewa Osho,
Ndidi Aisha Okunnuga,
Oluwatosin Idowu Oni,
Olugbenga Festus Fabusiwa
Issue:
Volume 8, Issue 3, September 2020
Pages:
102-105
Received:
16 July 2020
Accepted:
18 August 2020
Published:
21 September 2020
Abstract: Sickle cell anaemia and Glucose-6-phosphate dehydrogenase deficiency have anaemia as major clinical consequence. The two disorders are rarely co-expressed in a patient. However, the pathological co-existence of both disorders tends to worsen and aggravate the clinical presentation in affected individuals. We report a diagnosis of the co-inheritance of these two disorders in a 43 year old man who was diagnosed with SCA at childhood. He was managed in a secondary health care facility since child hood. He has had multiple blood transfusions on account of repeated episodes of haemolytic anaemia which was solely attributed to SCA. He was referenced our center on account of recurrent severe heamolytic anaemia with a PCV of 9%. In the preceding 2 months to detecting his G6PD deficient status, he was having monthly blood transfusions on account of severe anaemia. Following the detection of his G6PD deficiency status and appropriate intervention with glutathione and selenium supplements and counseling to avoid exposure to oxidizing agents, he had a respite in the frequency of acute episodes of haemolysis necessitating blood transfusion, as well as an improvement in his steady state PCV of 16%. This case report underscores the importance of routine screening for G6PD status in patients with SCA so as to institute appropriate measures to reduce the worsening of incidence of acute episodes of haemolysis and the need for recurrent blood transfusions on account of this.
Abstract: Sickle cell anaemia and Glucose-6-phosphate dehydrogenase deficiency have anaemia as major clinical consequence. The two disorders are rarely co-expressed in a patient. However, the pathological co-existence of both disorders tends to worsen and aggravate the clinical presentation in affected individuals. We report a diagnosis of the co-inheritance...
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Penetrance of the p53 Gene in Uterine Fibroids in Senegalese Women
Ndime Fama,
Tendeng Jacques Noël,
Kénémé Bineta,
Sembène Mbacké
Issue:
Volume 8, Issue 3, September 2020
Pages:
106-113
Received:
8 July 2020
Accepted:
25 July 2020
Published:
24 September 2020
Abstract: Uterine Leiomyoma are a very common benign tumors, affecting 20-30% of the female population over 35 years of age. Black women are the most affected compared to Caucasian women. In order to determine the genetic mecanisms involved in uterine fibroids in senegalese women, the study of penetrance of mutations of exon 4 of the gene was carried out. Our study is based on 27 patients with uterine fibroids. Samples of tumour tissue and blood were taken from each patient. After PCR-Sequencing, identification of mutations was carried out using Mutation Surveyor 5.0.1 and AlamutVisual 2.12 software. Pathogenicity mutations was evaluated with Polyphen-2, Mutation Taster and SIFT. After cleaning, correcting and aligning of sequences with BioEdit software, nucleotide variability, diversity, genetic evolution, correlation of tumors with epidemiological factors and tumors prevalence were determined with Dnasp 5.10.01, MEGA 7.0.14, Arlequin 3.5.3.1 and Rstudio 3.5.1 statistical software. Our results showed a high rate of polymorphism in tumour tissues (19 mutations) compared to blood samples (1 single mutation) but also a genetic difference between tumour and blood tissues. Mutations c.164C>A and c.215C>G affecting respectively codon 55 and 72 of p53 gene were significantly present in uterine fibroids tissues compared to blood. A first time mutation at position c.326T>C located in a specific DNA binding domain (a highly conserved area) and having pathological effects was found in uterine myomas. They also showed a structuring of the leiomyomas according to the age of the patient (30-40 years are the most affected). In conclusion, this is a fist study in Senegal associating the polymorphism of the p53 gene and the occurrence of uterine fibroids showing that some of variants found in tumour tissues could constitute a susceptibility factor in Senegalese women.
Abstract: Uterine Leiomyoma are a very common benign tumors, affecting 20-30% of the female population over 35 years of age. Black women are the most affected compared to Caucasian women. In order to determine the genetic mecanisms involved in uterine fibroids in senegalese women, the study of penetrance of mutations of exon 4 of the gene was carried out. Ou...
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Rapid Molecular Identification of Tetraselmis Using Enzymatic Digestion of the 18S rDNA Gene
Janeth Galarza,
Kevin Crespín,
Carolina Tufiño
Issue:
Volume 8, Issue 3, September 2020
Pages:
114-119
Received:
18 July 2020
Accepted:
17 August 2020
Published:
24 September 2020
Abstract: Tetraselmis is a genus of quadriflagellated single-celled green algae belonging to the Phylum Chlorophyta, commonly used in aquaculture with very promising biotechnological potential. The varied morphological characteristics, in some cases, have led to confusion in taxonomic identification. To solve this problem, new techniques based on molecular markers and restriction enzymes can ensure the identification of microalgae without sequencing. This study aimed to compare in silico modeling with an experimental restriction pattern based on the 18S rDNA gene for the identification of a microalgae strain. The strain grew in a culture medium, based on organic fertilizer. Theoretical analyses allowed the design of three primers based on the alignment of eight sequences obtained from NCBI, applying the Geneious Prime® 2019 and V1.3 and Oligo Calculator version 3.2. programs. The in silico restriction patterns was obtained with the NEBcutter v2.0 program. Experimental analyses began with the extraction of the DNA using the TENS protocol, then PCR amplification using PM-016F/PM-016R and PM-001F/PM-016R primers of 18S rDNA and finally the product was digested with BbvCI and Eco53kI; BstUI, RsaI and MspI enzymes. The DNA concentration extraction reached 3200 ng µl-1 and a purity of 2.0. The PCR amplified two products: 950 bp and 1400 bp, which brought us closer to identifying the microalgae. The in silico modeling and experimental restriction patterns showed similar fragments. In this way, the efficient response of restriction enzymes was demonstrated by confirming that the PM013 strain corresponds to the Tetraselmis genus. This method can be considered as a fast and safe alternative to identify wild microalgae in a basic molecular biology laboratory.
Abstract: Tetraselmis is a genus of quadriflagellated single-celled green algae belonging to the Phylum Chlorophyta, commonly used in aquaculture with very promising biotechnological potential. The varied morphological characteristics, in some cases, have led to confusion in taxonomic identification. To solve this problem, new techniques based on molecular m...
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