Analysis of clinical characteristics of a pedigree with familial renal cell carcinoma and germline mutation of VHL gene / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To detect germline mutation in a pedigree affected with familial renal cell carcinoma and explore its molecular pathogenesis.@*METHODS@#Peripheral blood samples from the patients and her family members were collected for the extraction of genomic DNA. Sanger sequencing, real-time quantitative PCR and reverse transcriptase-PCR (RT-PCR) were carried out to detect single base mutation, small insertion and deletion, and large fragment deletion of the VHL gene.@*RESULTS@#Real-time quantitative PCR combined with sequencing of RT-PCR product showed that there was a single-copy deletional germline mutation in exon 2 of the VHL gene in the proband.@*CONCLUSION@#Loss of heterozygosity in exon 2 of the VHL gene probably underlay the etiology of familial renal cell carcinoma in this pedigree. Screening for germline mutations of the VHL gene can effectively predict the prognosis of individual patients.