A genetic linkage study of Wilson disease in Korean families

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 requires the study of another ethnic group, especially Asian population for the confirmation. This study was an anlysis of restriction fragment length polymorphism of the Wilson's disease with the probes on D13S26, D13S31, and D13S59, The subject was 34 persons of seven families. The 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 (theta =0 D13S59, 1.13 (theta =0) D13S26, 247 (theta =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+/1.8dl, and 64.7+/-38.6microg/dl respectively and it is 18.8+/-6.1 mg/dl and 65.3+/-10.6microg/dl respectively in heterozygotes.