Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease

Figure 1 Family analysis of patient 038. A: Patients father carrying 1384Del17bp (ATP7B genes position 1384-1400 bp deletion). B: Msp I digested PCR product of ATP7B gene exon 8 of patients mother shows that she was R778L carrier. C and D: Patients genotypes are R778L/1384Del17 bp, 1384Del17 bp from his father and R778L from his mother.

Figure 2 Nucleic acid sequence of PCR products of WD gene. A: Gly943Asp(G943D) heterlozygous for a G-A mutation at position 2828, B: Val1140Ala (V1140A) heterlozygous for a T-C mutation at position3419, C: Val1106Ile (V1106I) heterlozygous for aG-A mutation at position3316, D: Val1216Met (V1216M) heterlozygous for a G-A mutation at position 3646.E. and F: Arg778 Leu (R778L) homolozygous and heterzygous for a G-T mutation at position 2333.