윌슨 유전자의 돌연변이 분석: 한국 윌슨병 환자에서의 Arg778Leu 돌연변이
Mutation Analysis of Wilson Disease Gene: Arg778Leu Mutation in Korean Children
서정기, 김종원,
소속 상세정보
서정기 ( Seo Jeong-Kee )
서울대학교 의과대학 소아과학교실
김종원 ( Kim Jong-Won )
성균관대학교 의과대학 삼성서울병원 임상병리과학교실
KMID : 0816119990020020164
Abstract
Background : Wilson disease (WD) is an autosomal recessive disorder of copper
transport and characterized by degenerative changes in the brain, liver dysfunction, and
Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of
Wilson disease gene (ATP7B), more than 80 mutations have been detected among the
different ethnic groups.
Methods : Twenty three children with Wilson disease were included in this study.
They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary
copper excretion with characteristic clinical findings.
We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9
and 10 including intron-exon boundaries of ATP7B gene from genomic DNA.
Results : Arg778Leu mutation was identified in 16 WD patients; three were
homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles
had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of
WD. Arg778Leu mutation was not found among 50 normal healthy persons.
Conclusion : Arg778Leu mutation is a common mutation in Korean WD gene.
Arg778Leu mutation screening might be used as a useful supplementary diagnostic test
in some patients to confirm Wilson disease in Korea.
키워드
Wilson disease gene; Mutation;
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