دورية أكاديمية

Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease.

التفاصيل البيبلوغرافية
العنوان: Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease.
عنوان ترانسليتريتد: Polimorfismo p.L456V, presencia en pacientes cubanos con diagnóstico clínico presuntivo de la enfermedad de Wilson.
المؤلفون: Clark-Feoktistova Y; Máster en Ciencias Biológicas, Universidad de Guantánamo (UG). Laboratorio de Biología Molecular, Guantánamo, Cuba. Electronic address: feoktistova@cug.co.cu., Ruenes-Domech C; Especialista de primer grado en Gastroenterología, Directora del Instituto Nacional de Gastroenterología (ING), La Habana, Guantánamo, Cuba., García-Bacallao EF; Especialista de primer grado en Gastroenterología, Subdirectora de Docencia del Instituto Nacional de Gastroenterología (ING), La Habana, Guantánamo, Cuba., Roblejo-Balbuena H; Especialista de primer grado de Genética Clínica, Centro Nacional de Genética Médica, La Habana, Guantánamo, Cuba., Feoktistova L; Especialista en Lenguas Extranjeras, Universidad de Guantánamo, Guantánamo, Cuba., Clark-Feoktistova I; Especialista en Química, CITMA, Guantánamo, Cuba., Jay-Herrera O; Especialista en Bioestadística, Universidad de Guantánamo (UG), Guantánamo, Cuba., Collazo-Mesa T; Laboratorio de Biología Molecular, Centro Nacional de Genética Médica, La Habana, Guantánamo, Cuba.
المصدر: Revista de gastroenterologia de Mexico (English) [Rev Gastroenterol Mex (Engl Ed)] 2019 Apr - Jun; Vol. 84 (2), pp. 143-148. Date of Electronic Publication: 2018 Jun 10.
نوع المنشور: Journal Article
اللغة: English; Spanish; Castilian
بيانات الدورية: Publisher: Masson Doyma México, S.A Country of Publication: Mexico NLM ID: 101778603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2255-534X (Electronic) Linking ISSN: 2255534X NLM ISO Abbreviation: Rev Gastroenterol Mex (Engl Ed) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [México] : Masson Doyma México, S.A
مواضيع طبية MeSH: Hepatolenticular Degeneration/*epidemiology , Hepatolenticular Degeneration/*genetics, Adolescent ; Adult ; Child ; Copper-Transporting ATPases/genetics ; Cuba/epidemiology ; Exons/genetics ; Female ; Gene Frequency ; Humans ; Liver Diseases/epidemiology ; Liver Diseases/etiology ; Male ; Middle Aged ; Mutation ; Polymorphism, Genetic/genetics ; Polymorphism, Single-Stranded Conformational ; Young Adult
مستخلص: Introduction and Aims: Wilson's disease is characterized by the accumulation of copper in different organs, mainly affecting the liver, brain, and cornea, and is caused by mutations in the ATP7B gene. More than 120 polymorphisms in the ATP7B gene have been reported in the medical literature. The aim of the present study was to identify the conformational changes in the exon 3 region of the ATP7B gene and detect the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease.
Material and Methods: A descriptive study was conducted at the Centro Nacional de Genética Médica and the Instituto Nacional de Gastroenterología within the time frame of 2007-2012 and included 105 patients with a clinical diagnosis of Wilson's disease. DNA extraction was performed through the salting-out method and the fragment of interest was amplified using the polymerase chain reaction technique. The conformational shift changes in the exon 3 region and the presence of the p.L456V polymorphism were identified through the Single-Strand Conformation Polymorphism analysis.
Results: The so-called b and c conformational shift changes, corresponding to the p.L456V polymorphism in the heterozygous and homozygous states, respectively, were identified. The allelic frequency of the p.L456V polymorphism in the 105 Cuban patients that had a clinical diagnosis of Wilson's disease was 41% and liver-related symptoms were the most frequent in the patients with that polymorphism.
Conclusion: The p.L456V polymorphism was identified in 64 Cuban patients clinically diagnosed with Wilson's disease, making future molecular study through indirect methods possible.
(Copyright © 2018 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.)
فهرسة مساهمة: Keywords: Enfermedad de Wilson; Polimorfismo p.L456V; SSCP; Single-strand conformation polymorphism; Wilson's disease; p.L456V polymorphism
المشرفين على المادة: EC 7.2.2.8 (ATP7B protein, human)
EC 7.2.2.8 (Copper-Transporting ATPases)
تواريخ الأحداث: Date Created: 20180615 Date Completed: 20191223 Latest Revision: 20210525
رمز التحديث: 20240628
DOI: 10.1016/j.rgmx.2018.03.005
PMID: 29898862
قاعدة البيانات: MEDLINE