Volume 8, Issue 3, September 2020, Page: 106-113
Penetrance of the p53 Gene in Uterine Fibroids in Senegalese Women
Ndime Fama, Department of Animal Biology, Faculty of Science and Technology, University Cheikh Anta Diop of Dakar, Dakar, Senegal
Tendeng Jacques Noël, Service of General Surgery, Regional Hospital Center of Saint-Louis, University Gaston Berger of Saint-louis, Saint-Louis, Senegal
Kénémé Bineta, Department of Animal Biology, Faculty of Science and Technology, University Cheikh Anta Diop of Dakar, Dakar, Senegal
Sembène Mbacké, Department of Animal Biology, Faculty of Science and Technology, University Cheikh Anta Diop of Dakar, Dakar, Senegal; Department of Animal Biology, Faculty of Science and Technology, University Cheikh Anta Diop of Dakar, Biology Center for Population Management (GENGESPOP), Institute of Research and Development, IRD/Bel-Air, Dakar, Sénégal
Received: Jul. 8, 2020;       Accepted: Jul. 25, 2020;       Published: Sep. 24, 2020
DOI: 10.11648/j.ijgg.20200803.13      View  113      Downloads  45
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.
Keywords
Uterine Fibroids, p53, Senegal
To cite this article
Ndime Fama, Tendeng Jacques Noël, Kénémé Bineta, Sembène Mbacké, Penetrance of the p53 Gene in Uterine Fibroids in Senegalese Women, International Journal of Genetics and Genomics. Vol. 8, No. 3, 2020, pp. 106-113. doi: 10.11648/j.ijgg.20200803.13
Copyright
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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