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司他汀的基因分型及其与卵巢癌患者临床因素和生存的关系。

Genotyping of stathmin and its association with clinical factors and survival in patients with ovarian cancer.

作者信息

Ying Lisha, Su Dan, Zhu Jianqing, Ma Shenglin, Katsaros Dionyssios, Yu Herbert

机构信息

Cancer Research Institute, Zhejiang Cancer Hospital, Hangzhou, Zhejiang, P.R. China ;

出版信息

Oncol Lett. 2013 Apr;5(4):1315-1320. doi: 10.3892/ol.2013.1144. Epub 2013 Jan 18.

Abstract

Stathmin is closely correlated with the progression and prognosis of a number of types of human cancer. The present study analyzed the associations between genetic variations in the stathmin gene and clinical outcomes of ovarian cancer. A total of 178 patients with epithelial ovarian cancer were treated with cytoreductive surgery followed by platinum-based chemotherapy. DNA was extracted from fresh tumor samples obtained during surgery. A total of 32 DNA samples were selected randomly for resequencing of the stathmin gene. Tag single nucleotide polymorphisms (SNPs) were identified based on the haplotype model as analyzed by PolyPhred software. Direct sequencing was employed in the genotyping of stathmin in 178 cases. A total of 10 nucleotide variations in stathmin were identified, of which 3 high-frequency variations were known SNPs from databases and 7 were new variations with low frequencies. The tag SNPs rs159531 and rs11376635 were selected from the linkage disequilibrium block of the gene to genotype stathmin in 178 cases. The distribution of the rs159531 genotype in ovarian cancer was 52.8% C/C, 35.4% C/T and 11.2% T/T. The distribution of the rs11376635 genotype in ovarian cancer was 32.0% G/G, 48.3% G/-, 18.5% -/-. The main haplotypes calculated by phase2.0 software were 55.6% CG, 27.8% T-, 15.4% C- and 1.2% TG. However, no associations between the stathmin genotype or haplotype and the outcomes in patients with ovarian cancer were observed. The stathmin genotype and haplotype were not associated with the phenotype of patients with ovarian cancer.

摘要

Stathmin与多种人类癌症的进展和预后密切相关。本研究分析了Stathmin基因的遗传变异与卵巢癌临床结局之间的关联。共有178例上皮性卵巢癌患者接受了肿瘤细胞减灭术,随后进行铂类化疗。从手术期间获取的新鲜肿瘤样本中提取DNA。随机选择32个DNA样本对Stathmin基因进行重测序。根据PolyPhred软件分析的单倍型模型鉴定标签单核苷酸多态性(SNP)。采用直接测序法对178例患者的Stathmin进行基因分型。共鉴定出Stathmin基因的10个核苷酸变异,其中3个高频变异是数据库中已知的SNP,7个是低频新变异。从该基因的连锁不平衡区域中选择标签SNP rs159531和rs11376635对178例患者的Stathmin进行基因分型。卵巢癌中rs159531基因型的分布为C/C占52.8%,C/T占35.4%,T/T占11.2%。卵巢癌中rs11376635基因型的分布为G/G占32.0%,G/-占48.3%,-/-占18.5%。通过phase2.0软件计算的主要单倍型为CG占55.6%,T-占27.8%,C-占15.4%,TG占1.2%。然而,未观察到Stathmin基因型或单倍型与卵巢癌患者结局之间的关联。Stathmin基因型和单倍型与卵巢癌患者的表型无关。

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