Investigation on the mutation of exon 13 of ATP7B gene in patients with hepatolenticular degeneration located in middle east of China

Objective To investigate the mutation of exon 13 of ATP7B gene in patients with hepatolenticular degeneration(HLD)located in middle east of China.Methods Exon 13 of ATP7B gene in 139 not family HLD patients(HLD group)which came from middle east of China were detected by PCR-DNA sequencing.And the results were compared with 52 normal controls(NC group).Results No abnormality was found in NC group.6 mutations and 1 polymorphism were found in HLD group,and there was a novel mutation(Gly988Val).The total rate of mutation and polymorphism of exon 13 in HLD group was 29.49%(41/139),and its frequency of chromosome mutation was 15.83%(44/278).Besides,the rate of Pro992Leu homozygous or heterozygous mutation was 23.02%(32/139),and its frequency of chromosome mutation was 12.59%(35/278).Conclusions Exon 13 of ATP7B gene is a hot location of mutation in HLD patients which come from middle east of China,and it is one of the exons which should be detected preferentially when screening doubtful HLD patients.