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2018, Number 3

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Rev Cub Gen 2018; 12 (3)

Frequency of G85E and V754M mutations in patients with a clinical diagnosis of cystic fibrosis

Martínez SJA, López RI, Santos GEN, Esperón ÁAA, Barbón SC, Collazo MT

Language: Spanish
References: 23
Page:
PDF size: 569.93 Kb.


ABSTRACT

Introduction: Cystic fibrosis is one of the most common hereditary diseases worldwide in populations of Caucasian origin. This condition follows an autosomal recessive inheritance pattern, and its incidence in Cuba is 1 per 9 862 live births. More than 2 000 mutations have been described which affect the regulator gene of cystic fibrosis transmembrane conductance.
Objective: Determine the frequency of G85E and V754M mutations in Cuban patients with a clinical diagnosis of cystic fibrosis.
Methods: In the present study G85E and V754M mutations were detected by polymerase chain reaction - restriction fragment length polymorphism.
Results: Of the 130 samples analyzed, 7 were positive: 3 heterozygous, 1 homozygous for V754M and 3 heterozygous for G85E.
Conclusion: Frequencies for V754M and G85E were 1.9% and 1.2%, respectively. Based on these frequency values, it would be advisable to consider the inclusion of detection of these mutations in the molecular diagnosis of Cuban patients with cystic fibrosis.


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