Clark FY, Ruenes C, García BEF, Collazo MT, Robaina JZ, Castañeda C, Roblejo H

Language: Spanish
References: 12
Page: 197-202
PDF size: 89.42 Kb.

ABSTRACT

Introduction: Wilson's disease is characterized by accumulation of copper in liver, brain and cornea. It is an autosomal recessive inherited disorder of copper metabolism. The molecular causes are mutations in the atp7b gene. It has been reported in the literature several polymorphisms in the atp7b gene.
Objective: this research aims to identify the polymorphism K832R in 100 Cubans patients with clinical diagnosis of Wilson's disease.
Materials and Methods: in this study we used the technique of screening: single stranded conformational polymorphism for the determination of conformational shifts in exon 10. We used sequencing technique for identifying the K832R polymorphism.
Results: they identified three different conformational shifts denominated: a, b and c. The shifts b and c corresponded to polymorphism K832R in heterozygous and homozygous state respectively. The frequency of this polymorphism K832R is 35% in 100 Cubans patients.
Conclusions: the polymorphism K832R was identified first in Cuba and it will make possible molecular studies by indirect methods.

REFERENCES

1. Kumar Suresh S, Kurian George, Eapen E, Roberts Eve A. Genetics of Wilson's disease: a clinical perspective. Indian Journal of Gastroenterology. 2012; 3 (6): 285-293.

2. Kenney SM, Cox DW. Sequence Variation Database for the Wilson Disease Copper Transporter, ATP7B. Human Mutation. 2007; 28 (12): 1171-77.

3. Bennett J, Hahn SH. Clinical Molecular Diagnosis of Wilson Disease. Seminars in liver disease. 2011; 31 (3): 233-238.

4. Margarit E, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, Ballesta, F. Mutation analysis of Wilson disease in the Spanish population identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet. 2005; 68: 6168.

5. Brage A, Tomé S, García A, Carracedo A, Salas A. Clinical and molecular characterization of Wilson disease in Spanish patients. Hepatology Research. 2007; 37: 18-26.

6. Sheng Y, Liang G, Quan-Xiang S, Lin-Fu Z. Wilson disease: Identiûcation of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol. 2007; 13 (38): 5147-5150.

7. Wang LH, Huang YQ, Shang X, Su QX, Xiong FX, Qing-Yun Y, et al. Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. Journal of Human Genetics. 2011; 56: 660- 665.

8. Nanji M, Nguyen V, Kawasoe J, Inui K, Endo F, Nakajima T, et al. Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease. Am J Hum Genet. 1997; 60: 1423-1429.

9. Narges Z, Reza S, Esteghamat S, Mohsen Ch, Montazer M. Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. Hepat Mon. 2011; 11 (11): 890-894.

10. Gupta A, Maity B, Trivedi R, Ray J, Das SK, et al. Molecular pathogenesis of Wilson-disease: haplotype analysis, detection of prevalent mutations and genotypephenotype correlation in Indian patients. Hum Genet. 2005; 118 (1): 49-57.

11. Shah A, Chernov I, Zhang H, Ross B, Das K, Lutsenko S, et al. Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation and Functional Analyses. Am. J. Hum. Genet. 1997; 61: 317-28.

12. Miller SA. Salting out procedure for extracting DNA. Nucleic Acids Reserch. 1988; 16 (3): 1215.