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Role of Glutathione S-Transferase (<i>GSTM</i>1 and <i>GSTT</i>1) Genes Deletion in Susceptibility to HIV-1 Disease Progression

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Journal of Biosciences and Medicines 2020年第2期8卷 41-54页

作者： Florencia Wendkuuni Djigma Pegdwendé Abel Sorgho Serge Théophile Soubeiga Albert Théophane Yonli Herman Karim Sombie isabelle touwendpoulimdé kiendrebeogo Tégwindé Rebeca Compaore Abdoul Karim Ouattara Bapio V. J. T. Elvira Bazie Bolni Marius Nagalo Jacques Simpore Molecular Biology and Genetics Laboratory (LABIOGENE) Department of Biochemistry and Microbiology University JOSEPH KI-ZERBO Ouagadougou Burkina Faso Pietro Annigoni Biomolecular Research Center (CERBA) Ouagadougou Burkina Faso Institut de Recherche en Sciences de la Sante (IRSS) Biomedical and Public health Department Ouagadougou Burkina Faso Division of Hematology and Oncology Mayo Clinic Scottsdale AZ USA

Background: Glutathione S-transferases (GSTs) are multifunctional enzymes which play an important role in oxidative stress pathways by conjugation with glutathione. Oxidative stress is one of several risk factors that may be associated with many types of diseases progression such as cancer and infectious diseases. In this study, we investigated the association between the polymorphism of GSTM1 and GSTT1 genes and the risk of HIV-1 disease progression. Methods: We conducted a case-control study including 313 participants of Burkina Faso: 153 HIV-1 infected individuals on antiretroviral treatment (ART) and 160 HIV-1 negative individuals as controls. Presence or absence of the GSTM1 and GSTT1 genes was determined using multiplex polymerase chain reaction (PCR). CD4+ T counts and HIV-1 viral load were measured in patients using respectively BD FACSCount and Abbott m2000rt instruments. Results: Frequencies of GSTM1-null and GSTT1-null were 30.35% and 35.46% respectively and the frequency of double deletion GSTM1-null/GSTT1-null was 14.38% in the general study population. GSTM1-null (30.35% versus 69.65%;OR = 1.90;p = 0.010), GSTT1-null (35.46% versus 64.54%;OR = 3.11;p GSTM1-active/GSTT1-null (21.08% versus 48.56%;OR = 3.17;p GSTM1-null/GSTT1-null (14.38% versus 48.56%;OR = 4.46;p GSTM1-null and GSTM1-null/GSTT1-null were associated with increased odds of low CD4+ count (3) and high HIV-1 viral load (≥1000 copies/mL). Conclusion: GSTM1-null, GSTT1-null genotype, the double genotypes GSTM1-active/GSTT1-null and GSTM1-null/GSTT1-null were associated with HIV-1 disease progression and GSTM1-null and GSTM1- null/GSTT1-null genotypes were associated with low CD4+ T cells counts and high HIV-1 viral load in HIV-1infected patients on ART.

关键词： HIV-1 GSTM1 GSTT1 Burkina Faso

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Molecular Diagnosis of Sexual Differentiation Disorders in Burkina Faso

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Journal of Biosciences and Medicines 2024年第3期12卷 1-15页

作者： Bazie Bapio Valérie Elvira Jean Télesphore Sawadogo Soumaïla Zohoncon Théodora Mahoukèdè Tall Ahmadou Bado Prosper Soubeiga Serge Théophile Ouattara Moussa Sorgho Abel kiendrebeogo touwendpoulimdé isabelle Yonli Albert Theophane Djigma Florencia Millogo/Traore Timongo Françoise Danielle Simpore Jacques Centre National de la Recherche Scientifique et Technologique (CNRST) Institut de Recherche en Sciences de la Santé (IRSS) Ouagadougou Burkina Faso Université Joseph KI-ZERBO Unité de Formation en Sciences de la Vie et de la Terre Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE) Ouagadougou Burkina Faso Centre de Recherche Biomoléculaire Pietro Annigonie (CERBA) Ouagadougou Burkina Faso Centre Hospitalier Universitaire Régional de Ouahigouya Ouagadougou Burkina Faso Centre Hospitalier Universitaire Yalgado Ouedraogo Université Joseph Ki-Zerbo Ouagadougou Burkina Faso

Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to elucidate sex in cases of anomalies of sexual differentiation in Burkina Faso. This cross-sectional study took place from March 2023 to June 2023. Oral and blood samples were collected respectively using sterile swabs and stored on Swab Kits and NUCLEIcardTM (https://***/product-ranges/nucleic-card/) were used to determine gonosome profiles. Extraction was carried out using the DNA Swap solution Kit and the DNA IQ System Kit, and a PowerPlex? 21 kit (Promega) for amplification. The Applied Biosystems 9700 thermal cycler was used for PCR followed by 36 cm capillary electrophoresis in the Applied Biosystems 3130 prism sequencer. Sequence files were analyzed using GeneMapper IDX v. 3.2 software. Seven (07) patients were registered during the study period. There were 4 cases of XX DSD or 46, XX DSD and 3 cases of XY DSD or 46, XY DSD. The median age of our patients was 16 years. Civilian sex was male in 4 cases and female in 3. The most frequent reason for consultation was micropenis in 3 cases, followed by primary amenorrhea and sex ambiguity. There were 03 cases of discrepancy between genetic sex and civil sex. The accessibility of molecular diagnosis is little known to clinicians. XX DSDs or 46, XX DSDs were the most frequent (4/7) in our study. The problem facing this situation is early diagnosis to help prevent complications in Burkina Faso.

关键词： Gonosome DSD Abnormal Sexual Development Burkina Faso

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