Screening analysis of candidate gene mutations in a kindred with polycystic liver disease

AIM:To find potential mutable sites by detecting mutations of the candidate gene in a kindred with polycystic liver disease (PCLD). METHODS:First, we chose a kindred with PCLD and obtained five venous blood samples of this kindred after the family members signed the informed consent form.In the kindred two cases were diagnosed with PCLD, and the left three cases were normal individuals.All the blood samples were preserved at -85 ℃.Second, we extracted the genomic DNA from the venous blood samples of the kindred using a QIAamp DNA Mini Kit and then performed long-range polymerase chain reaction (PCR) with different primers.The exons of sequence.This mutation was located in the first codon and resulted in a termination codon.This mutation had an obvious influence on the encoded protein and changed the length of the protein from 4303 to 2246 amino acids.This was a new mutation that was not present in the dbSNP library. CONCLUSION:The nonsense mutation of exon 15 existed in the proband and in the third individual.Additionally, the proband was heterozygous for this mutation, so the mutable site was a pathogenic mutation.