Molecular markers in cuban patients with Wilson's disease
Keywords:
Wilson's disease, molecular markers, polymorphism.Abstract
Introduction: More than 120 polymorphisms in the ATP7B gene have been reported in patients with Wilson's disease. Molecular studies allow the diagnosis of the disease.
Objectives: To identify conformational changes in exons 12 and 16 of the ATP7B gene, as well as to detect polymorphisms in Cuban patients with presumptive clinical diagnosis of Wilson's disease.
Methods: A descriptive study was conducted at the National Center of Medical Genetics and the Institute of Gastroenterology, during the period 2015-2020. Seventy patients with presumptive clinical diagnosis of Wilson's disease were included. DNA was extracted using the saline precipitation technique. Polymerase chain reaction technique was used to amplify the fragment of interest, detect conformational changes, and p.Arg952Lys and p.Val1140Ala polymorphisms. Single-strand conformational polymorphism and sequencing were used in exons 12 and 16 of the ATP7B gene.
Results: The allele frequencies of the p.Arg952Lys and p.Val1140Ala polymorphisms were 42.1% and 49.3%, respectively. Patients with these polymorphisms presented hepatic manifestations very frequently.
Conclusions: The identification of p.Arg952Lys and p.Val1140Ala polymorphisms in Cuban patients with Wilson's disease will make it possible to perform molecular studies by direct and indirect methods.
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