Objective: To assess the possible association between the polymorphisms of Rb (intron 20, 17) and susceptibility of esophageal cancer so as to provide clues for genetic markers of esophageal cancer.
Methods: Samples were taken from 56 normal Han people of Shaanxi, 47 esophageal cancer samples, and 31 peri-cancerous non-tumor. DNAs were analysed by using PCR technique.
Results: Ten alleles fragments were found in Han population of Shannxi by using primer Rb gene (intron 20). PIC was 0.86. Heterozygosity was 0.7. In esophageal cancer tissues, PIC was 0.82. Heterozygosity was 0.55. In peri-cancerous non-tumor, PIC was 0.87. Heterozygosity was 0.74. Distribution of genotype frequency was significantly different between Han population of Shaanxi and esophageal cancer (P < 0.01). Two alleles (945 bp, 630 bp + 315 bp) fragments were found in Han population of Shaanxi by using primer Rb gene (intron 17). Genotype frequency of Han population of Shaanxi was A/A: 0.28, A/B: 0.52, B/B: 0.20. Genotype frequency of esophageal cancer was A/A: 0.11, A/B: 0.77, B/B: 0.12. Distribution of genotype frequency was significantly different between Han population of Shaanxi and esophageal cancer (P < 0.05). Mutation of Rb gene was found in 7 cases.
Conclusions: Polymorphism of Rb (intron 20) VNTR and Rb (intron 17) could be used as valuable markers. There should bea relationship between polymorphism of Rb VNTR and esophageal cancer susceptibility.