All issues > Volume 36(11); 1993

Original Article

J Korean Pediatr Soc. 1993;36(11):1596-1612. Published online November 15, 1993.

A Genetic Linkage Study of Wilson Disease in Korean Families

Jong Won JW Kim¹, Sang In SI Kim¹, Jeong Kee JK Seo²

¹Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea
²Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Abstract

Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requites the study of another ethnic group, especially Asian population for the confirmation. This study was an analysis of restriction fragment length polymorphism of the Wilson's disease with serum ceruloplasmin and the serum copper were also measured. The results were as follows : 1) The Wilson disease gene was also presumed to be located in chromosome 13q area in Korean patients and D13S25, D13S26, D13S31 and D13S59 gene loci were also linked to Wilson disease of Koreans. The lod score of D13S25 was 1.45(θ=0) : D13S31, 1.66(θ=0) : D13S59, 1.13(θ=0) : D13S26, 2.47(θ=0). 2) Three siblings of Wilson disease patients were diagnosed as carriers by the analysis of restriction fragment length polymorphism. 3) In Wilson disease patients, the serum ceruloplasmin and copper was 6.8+/-1.8mg/dl, and 64.7+/-38.6㎍/dl respectively and it is 18.8+/-6.1mg/dl and 65.3+/-10.6㎍/dl respectively in heterozygotes.

Keywords :Wilson disease, Restriction fragment length ploymorphism, Linkage analysis