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2015, Number 2

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Rev Cub Gen 2015; 9 (2)

Distribution of the most frequent cystic fibrosis mutations in Cuba

López RI, Collazo MT, Santos GEN, Piloto RY, Gómez MM, Reyes NL, Rodríguez CF, Casals ST

Language: English
References: 40
Page: 9-16
PDF size: 520.01 Kb.


ABSTRACT

More than 1 900 mutations have been identified in the CFTR gene, responsible of cystic fibrosis, some of them frequent in most of the populations while other ones are proper of a single region or family. Due to the great multinational heteroheneity and taking into account the ethnic origin of the Cuban population, the objective of this study was to carry out the distribution of the most frequent mutations in the different regions of the country. DNA extraction was carried out to samples of peripheral blood. The detection of p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G › A was carried out by means of the Polymerase Chain Reaction, followed by enzymatic digestion and electrophoresis in agarose gel. Afterwards the frequency of said mutations was calculated for each one of the country regions. From the 252 fibrocystic studied patients, 106 were from the Western region, 65 from the Central region and 81 from the Eastern region of the country. The p.F508 mutation resulted to be the most frequent one in the Central Region, p.G542X and p.R334W were more represented in the Eastern region. Nevertheless the p.R1162X and c.3120+1G›A mutations were similarly represented in the three regions, while the p.R553X was not found in the Eastern region. Taking into account the ethnic origin of our population a large molecular heterogeneity in cystic fibrosis was to be expected. The most frequent mutations detected up to now are generally distributed throughout the island, related to the impact of European, African and native-American genes, as well as depending on the migration among different regions in the country.


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