Detection and analysis of the mutation in exon 8 and 13 of ATP7B gene in patients with hepatolenticular degeneration located in Xuzhou

Objective:To investigate the mutation of exon 8 and 13 of ATP7B gene in patients with hepatolenticular degeneration(HLD) located Xuzhou of China,based prenatal diagnosis of early diagnosis and provide a theoretical basis.Methods: Extract the genomic DNA from 33 HLD patients and 30 normal controls,and amplify exon 8,13 of ATP7B gene by polymerase chain reaction(PCR).The amplification products of exon 8 and exon 13 were digested with MspI and BtgI respectively followed by sequencing the PCR products of exon 8 and 13 from all the patients and normal controls.Results: Digested by MspI through amelioration,15 cases were abnormal.Sequence results showed that 45.45%(15/33)of the cases had homozygous or heterozygous Arg778Leu mutation in exon 8.9 cases were abnormal using digestion by BtgI,direct sequencing showed 27.27%(9/33)of the cases had heterozygous Pro992Leu mutation in exon 13.No abnormality was found in normal controls group.Conclusion: Arg778Leu in exon 8 and Pro992Leu in exon 13 are the hot points mutation in HLD patients which come from Xuzhou of China,and they are the exons which should be detected preferentially when screening doubtful HLD patients.