Gene Analysis Of Hepatolenticular Degeneration Family

Objective:Hepatolenticular Degeneration is an autosomal recessive genetic disorder of copper metabolism disorders, the etiology of the disease is due to mutations cause ATP7 B protein coding change, and exons8 of the gene mutation is the first hot zone of ATP7 B. In this paper, we talk about the gene mutation sequencing in exon8 of one patient and his family and a normal people case,and then guid for diagnose and treatment.Methods:Collect peripheral blood samples of patients and healthy family of Wilson’s disease degeneration, extracted genome DNA, do polymerase chain reaction.And PCR products were sequenced, the sequencing results of patients and their families and normal were compared, then mutations were observed.Results:Gene sequencing results showed that patients ATP7 B gene exon8 presence Arg778Leu missense mutation, accompanied Leu700 Leusynonymous mutations. Patient mother and father ATP7 B gene exon 8heterozygous Arg778 Leu missense mutation, accompanied Leu700 Leu synonymous mutations. Others exon8 gene sequences not present mutations.Conclusions:According ATP7 B obtained gene exon 8 of the results, suggesting that the gene expression product amino acid alignments showed that the risk may exist Arg778 Leu mutation. The incidence of this mutation may be the reason for this patient.