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Ovarian Tumors in Senegalese Women: Impact of D-Loop Mutations between Healthy and Cancerous Tissues

Open Journal of Genetics 2024年第2期14卷 37-46页

作者： rouguiyatou ka Fatimata Mbaye Bineta Kénéme Mbacké Sembène Genomics Laboratory Department of Animal Biology Faculty of Science and Technology Cheikh Anta Diop University Dakar Senegal

In Senegal in particular, ovarian cancer, which is one of the most common gynecological cancers, accounts for 2.8% of deaths. The most important risk factor is genetic, with 10% of cases occurring in a context of genetic predisposition. The sequencing of the human genome, which has led to the discovery of millions of sequence variations, makes it possible to study variations within sequences. These variations are limited to Single Nucleotide Polymorphisms (SNPs) and this common form of polymorphism occurs approximately every 1000 bases in the human genome and 1.8 million SNPs are currently listed according to [1]. The aim of this study is to gain a better understanding of the impact of mutations in the D-loop region of mtDNA on ovarian cancer in Senegalese women. This study involved searching for mutations in our study population after DNA extraction and sequencing. Mutations were found after a comparison of our sequences with the Cambridge reference sequence (NC_012920). The mutations found in the DNA studied extend from position 7 to position 16568 and most of these mutations are located in the hypervariate zones (HV1 and HV2). Heteroplasmy with three mutant alleles was also found in certain variants. Common mutations were found in both healthy and cancerous tissues, with almost identical frequencies in both types of tissue. This enabled us to understand the spread of tumor cells throughout the ovary.

关键词： Ovarian Cancer Mutations D-Loop Heteroplasmy

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Ovarian Tumors in Senegalese Women: Impact of D-Loop Mutations between Healthy and Cancerous Tissues

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Open Journal of Genetics（遗传学期刊） 2024年第2期 37页

作者： rouguiyatou ka Fatimata Mbaye Bineta Kénéme Mbacké Sembène

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