基因测序筛选前列腺癌患者PCA3(DD3)基因外显子多态性

目的 筛查前列腺癌患者PCA3基因外显子单核苷酸多态性位点,初步探讨PCA3基因多态性与前列腺癌的相关性.方法 采用基因测序法对41例前列腺癌(PCa)患者和40例良性前列腺增生(BPH)患者进行PCA3基因外显子SNP位点的筛选,对筛选到的sNP位点进行前列腺癌的相关性分析.结果 PcA3基因外显子1、外显子3、外显子4区域均未检测到基因多态性位点,PCA3基因外显子2区域存在1个SNP位点(A→C),基因型分别为AA型、AC型、CC型,该位点的基冈型频率和等位基因频率与前列腺癌存在相关性(P<0.05).结论 基因测序可有效筛选到PCA3基因外显子的SNP位点,PCA3基因外显子2基因多态性可能与前列腺癌发病风险有关.

Screening polymorphism of PCA3 gene exon in prostate cancer patients by DNA sequencing

Objective To screen single nucleotide polymorphism (SNP) of PCA3 gene exon in prostate cancer patients and further investigate the relationship between polymorphism of PCA3 gene exon and prostate cancer. Methods Polymorphism of PC A3 gene exon in 41 patients with prostate cancer(PCa) and 40 patients with prostatic hyperplasia (BPH) was detected by DNA sequencing, And then the genotype frequency and allele frequency of SNP were assessed. Results A SNP (A → C) in PCA3 gene at exon 2 region was detected, whereas no SNP at exon 1, exon 3, exon 4 region was found. Genotypes A/A, A/C and C/C were identified in PCA3 gene at exon 2 region. Significant differences in PCA3 gene exon 2 were found in the frequencies of genotypes or alleles between PCa patients and BPH patients. Conclusion The polymorphism of PCA3 gene at exon 2 might be associated with incidence of human prostate cancer, and DNA sequencing was a screening method for SNP of PCA gene exon in prostate cancer.