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ISSN 2070-8718 (Print)

2012, Number 2

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Rev Cub Gen 2012; 6 (2)

Alpha 1-antitrypsyn deficiency molecular diagnosis implementation in Cuba

González QY, Collazo MT, Gómez MM, Hernández PY, Reyes NL

Language: Spanish
References: 15
Page: 42-46
PDF size: 602.00 Kb.


ABSTRACT

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.


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