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- W1978933649 abstract "Introduction: Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism caused by ATP7B gene. Arg778Leu, A874V and N1270S are the most common mutations in Korean patients. We assessed whether founder effect existed in Korean WD gene. Methods: We evaluated 21 patients with WD and their parents (total 63). We identified the most common 3 mutation type and microsatellite typing (D13S315, D13S 1325, D13S316) by genomic PCR and direct sequencing method. To identify founder effect in WD gene, 42 normal alleles of the parents were considered control group. Chi-square tests were used for statistical anaylsis. Results: Of the 21 subjects, common three mutations were found in 23 chromosomes; R778L mutation at exon 8 (15, 65.2%), A874V mutation at exon 11 (6, 26.1%) and N1270S mutation at exon 18 (2, 8.7%). Microsatellite typing results were as follows; For the patients with R778L, mutation, D13S315 showed the significant linkage disequilibrium of allele 5 with 10 out of 15 cases vs. 11 cases of 41 controls (p=0.0157) and D13S316 did allele 4 with 12 of 15 cases vs. 7 of 42 (p=0.00001) D13S1325 also suggested the linkage disequilibrium trend (p=0.0619). For A874V and N1270S, the linkage disequilibrium trend were suggested but statistically not significant, because of the small number of patients. Also, we constructed haplotypes of the R778L mutation with three loci. Most common haplotype was 5–4-R778L-4 (D13S315-D13S1325-Mutation-D13S316). These results suggested arche haplotype of Korean Wilson patients with R778L mutation might be D13S315(#5) – D13S 1325(#4) –R778L – D13S316(#4) and it had a founder effect. Conclusion: R778L mutation of ATP7B gene among Korean WD patients has a founder effect." @default.
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- W1978933649 date "2004-06-01" @default.
- W1978933649 modified "2023-09-26" @default.
- W1978933649 title "P0212 FOUNDER EFFECT AT R778L MUTATION OF ATP7B GENE AMONG KOREAN WILSON DISEASE PATIENTS" @default.
- W1978933649 doi "https://doi.org/10.1097/00005176-200406001-00336" @default.
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