Article
A novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.
Laboratory medicine - 7 Mar 2024
Díez Rodríguez Gerardo Raúl, Figueredo Lago Juan Emilio, Armas Cayarga Anny, González González Yaimé Josefina, García de la Rosa Iria, Collazo Mesa Teresa, López Reyes Ixchel, Batista Lozada Yulaimy, Rodríguez Calá Fidel Ramón, García Sánchez Juan Bautista
Abstract excerpt
Cystic fibrosis (CF), an autosomal recessive disease, is caused by variants in both alleles of the CF transmembrane conductance regulator (CFTR) gene. A new assay based on allele-specific polymerase chain reaction and high-resolution melting analysis was developed for the detection of 18 CF-causing CFTR variants previously identified in Cuba and Latin America. The assay is also useful for zygosity determination...
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