Detección de B Talasemia Mediante la Técnica de Amplificación Refractaria de Sistemas de Mutaciones (ARMS- PCR) - Bravo, Martha; Salazar, Raquel; Arends, Anabel; Alvarez, Maritza; Velázquez, Dalia; Guevara-I, José M; Castillo, Omar (Investigación Clínica, 2009)
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margin:0cm; margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-fareast-font-family:"Times New Roman"; @page Section1 size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0; div.Section1 page:Section1; –> <!–[if gte mso 10]> <![endif]–><!–[if gte mso 9]> Normal 0 21 false false false MicrosoftInternetExplorer4 <![endif]–><!–[if gte mso 9]> <![endif]–><!–[if !mso]> <![endif]–> <!– /* Style Definitions */ p.MsoNormal, li.MsoNormal, div.MsoNormal mso-style-parent:""; margin:0cm; margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-fareast-font-family:"Times New Roman"; @page Section1 size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0; div.Section1 page:Section1; –> <!–[if gte mso 10]> <![endif]–><!–[if gte mso 9]> Normal 0 21 false false false MicrosoftInternetExplorer4 <![endif]–><!–[if gte mso 9]> <![endif]–><!–[if !mso]> <![endif]–> <!– /* Style Definitions */ p.MsoNormal, li.MsoNormal, div.MsoNormal mso-style-parent:""; margin:0cm; margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-fareast-font-family:"Times New Roman"; @page Section1 size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0; div.Section1 page:Section1; –> <!–[if gte mso 10]> <![endif]–><!–[if gte mso 9]> Normal 0 21 false false false MicrosoftInternetExplorer4 <![endif]–><!–[if gte mso 9]> <![endif]–><!–[if !mso]> <![endif]–> <!– /* Style Definitions */ p.MsoNormal, li.MsoNormal, div.MsoNormal mso-style-parent:""; margin:0cm; margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-fareast-font-family:"Times New Roman"; @page Section1 size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0; div.Section1 page:Section1; –> <!–[if gte mso 10]> <![endif]–>Se empleó la técnica de amplificación refractaria de sistemas de mutaciones para determinar los tipos de mutaciones que causan b Talasemia (bTal) en la población venezolana. Ochenta pacientes seleccionados al azar de un total de 159 catalogados como b Talasémicos por presentar anemia hemolítica y niveles elevados de Hb A2, fueron estudiados por medio de la técnica de Amplificación Refractaria de sistemas de Mutaciones (ARMS- PCR). Este es un método basado en la reacción en cadena de la polimerasa, capaz de detectar diversas mutaciones puntuales y pequeñas deleciones o inserciones en el gen b globina, con el empleo de oligonucleótidos de secuencia específica. En 43/80 pacientes catalogados con las distintas presentaciones clínicas de b Talasemia y en 37/80 pacientes heterocigotos compuestos para hemoglobinopatías estructurales y b Talasemia, la mutación más comúnmente encontrada fue la ”“29, (de origen africano), seguida de la CD39 (de origen mediterráneo); también se encontró la -88, la IVSI-6 y con menor frecuencia la IVSI-110. La técnica ARMS - PCR es un método útil y rápido que permite detectar todas las mutaciones b Tal presentes y hacer un diagnóstico diferencial entre los pacientes con Talasemia menor y sujetos normales con Hb A2 elevada, lo cual es importante en los estudios poblacionales, y además permite precisar el diagnóstico de los pacientes que presentan hemoglobinopatías estructurales con niveles elevados de Hb A2