Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To exam two single nucleotide polymorphism(SNP) in VHL gene and intragenic loss of heterozygosity (LOH) of VHL gene in 79 Chinese sporadic renal cell carcinomas(RCCs), and to analyze the relationships between VHL LOH and clinicopathological parameters.</p><p><b>METHODS</b>The authors extracted tumor and normal tissue DNA and detected two genotypes of intragenic SNP sites, rs779805 in the 5'terminal and rs 1642742 in the 3'terminal of VHL gene by polymerase chain reaction-restriction frament length polymorphism, then analyzed VHL LOH by comparing tumor tissue versus normal tissue in heterozygosities. Subsequently the relationships between VHL LOH and clinicopathological parameters of RCCs were analyzed.</p><p><b>RESULTS</b>The computed heritage parameters of two SNPs, included genotype frequency, allele frequency, heterozygosity, and polymorphism information content. Twenty-nine heterozygosities were detected in 79 RCCs. LOH was found in 41.4%(12/29) of RCCs. No significant relationships between VHL LOH and age, sex, tumor stage, pathological grade were found.</p><p><b>CONCLUSION</b>LOH of VHL gene is an important genetic event in Chinese sporadic renal carcinoma, and the LOH frequency is 41.4%. VHL LOH has no influence on stage and grade of RCC.</p>