Resistencia Genética a la infección por VIH
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2021-02-24
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[ES]La resistencia natural a la infección por el Virus de la Inmunodeficiencia Humana (VIH) varía
mucho entre individuos, por ello se han estudiado ampliamente a los Individuos Expuestos
no Infectados (HESN) para identificar determinantes protectores innatos y adquirido. papel de las variantes de Número de Copia (CNV) ha permanecido en gran parte inexplorado, pero ahora se reconoce que las CNV desempeñan un papel importante en la etiología de una enfermedad compleja. El gen CFH, CFHR3 y CFHR1 son reguladores de la activación del complemento a través de la vía alternativa, los cuales juegan un papel clave en la vigilancia inmune y en la homeostasis. Se ha demostrado que las deleciones CFHR1 R3 están implicadas en la protección de ciertas enfermedades como la Degeneración Macular relacionada con la edad (DMAE). Teniendo esto presente creemos que es importante determinar las variaciones del número de copias del gen factor H del complemento, pues se sospecha que está involucrado en la resistencia frente a la infección por VIH-1. En este experimento se optimizó la técnica de Reacción en Cadena de la Polimerasa (PCR) con curva de fusión de alta resolución (HRM) para la detección del número de copias de CFHR1 y se realizó la determinación de variación del número de copias en las cohortes de pacientes de Jaén VIH y HESN por vía sexual.
[EN]Natural resistance to Human Immunodeficiency Virus (HIV) infection varies widely among HIV exposed seronegative (HESN) individuals; these have been extensively studied to identify innate and acquired protective determinants. Although the role of Copy Number Variants (CNVS) has remained largely unexplored, it is now recognized that play an important role in the etiology of a complex disease. The gene CFH, CFHR3 and CFHR1 are regulators of complement activation through the alternative pathway, which plays a key role in immune surveillance and homeostasis. It has been shown that deletions of CFHR1-R3 are involved in the protection of certain diseases such as Age Related Macular Degeneration (AMD). Based on this, we believe that is important to determine the variations in the copy number of complement factor H in our study because it is suspected that he is involved in the resistance against HIV-1. In this experiment, the Polymerase Chain Reaction (PCR) technique with High Resolution Melting (HRM) was optimized for the detection of the copy number of CFHR1 and the determination of the copy number variation in the cohorts of patient's Jaén HIV and HESN was carried.
[EN]Natural resistance to Human Immunodeficiency Virus (HIV) infection varies widely among HIV exposed seronegative (HESN) individuals; these have been extensively studied to identify innate and acquired protective determinants. Although the role of Copy Number Variants (CNVS) has remained largely unexplored, it is now recognized that play an important role in the etiology of a complex disease. The gene CFH, CFHR3 and CFHR1 are regulators of complement activation through the alternative pathway, which plays a key role in immune surveillance and homeostasis. It has been shown that deletions of CFHR1-R3 are involved in the protection of certain diseases such as Age Related Macular Degeneration (AMD). Based on this, we believe that is important to determine the variations in the copy number of complement factor H in our study because it is suspected that he is involved in the resistance against HIV-1. In this experiment, the Polymerase Chain Reaction (PCR) technique with High Resolution Melting (HRM) was optimized for the detection of the copy number of CFHR1 and the determination of the copy number variation in the cohorts of patient's Jaén HIV and HESN was carried.