Implementación del diagnóstico molecular de la deficiencia de la alfa-1-antitrip - sina en Cuba. Alpha 1-antitrypsyn deficiency molecular diagnosis implementation in Cuba.

Alfa 1-antitrypsin deficiency is a hereditary disease having an autosomal-recessive inheritance pattern. The gene frequency reported in Cuba in the decade of the 70s is respectively 0,022 and 0,019 for the most frequent Z and S mutations. The associated respiratory and/or hepatic symptoms are severe and considered as the second cause demanding a liver transplant in children. In this paper the results of the PCR (Polymerase Chain Reaction) technique standardization for S and Z mutations detection associated to alpha 1-antitrypsin deficiency and its implementation in Cuba are presented. Results corresponding to 24 patients with a clinical diagnosis of the disease and those of 10 healthy control patients are presented. In total, seven S and one Z alleles were detected, thus demonstrating the capacity of the technique to detect all possible alleles.