乳腺癌与瘦素受体基因变异的关系  

Relationship between the mutations of leptin receptor genes and breast cancer

作　　者：田富国[1] 韩存芝[2] 武海明[1] 杜丽莉[2] 荆结线[2] 赵先文[2] 田保国[2] 

机构地区：[1]山西省肿瘤医院乳腺治疗中心,太原030013 [2]山西省肿瘤研究所病因室

出　　处：《中华实验外科杂志》2008年第1期30-32,共3页Chinese Journal of Experimental Surgery

基　　金：山西省自然科学基金资助项目（2006011129）

摘　　要：目的探讨瘦素受体（OB—R）基因第exon4、exon6变异与乳腺癌的关系。方法收集山西省肿瘤医院乳腺外科2005年1月至12月行手术治疗的乳腺癌患者癌灶组织85例，良性病组织30例，健康人群抗凝血50例。采用PCR扩增、测序的方法检测标本中OB-R基因exon4、exon6的变异情况。结果OB—R基因exon4在乳腺癌、乳腺良性疾病患者和健康对照者均未发生变异。OB—R基因exon6的668核苷酸位点处发生了A—G的碱基颠换，导致Gln223Arg，乳腺癌组68例（68．24％），良性疾病组20例（66，67％）和健康对照组33例（66．oo％）分别发生碱基颠换，但三组比较差异无统计学意义（P〉0．05）。在乳腺癌组的52例超重和肥胖患者中有43例（82，69％）OB-R基因exon6位点处碱基颠换明显高于与正常体重的17例（51，52％）患者，两组比较有统计学意义（x^2=12．89，P〈0，01）。结论OB—R基因exon4与乳腺癌发生无关，exon6的变异与体重指数改变的乳腺癌患者有关。Objective To investigate the relationship between the-variations of leptin receptor genes at exon 4 and exon 6 and breast cancer, and to identify the candidate genes and the protecting genes. Methods Genomic DNA was extracted from 85 breast cancer patients,30 benign patients and 50 health controls of tissue and blood samples. The variations of leptin receptor genes at exon 4 and exon 6 were examined with polymerase chain reaction （PCR） amplification and direct sequence analysis. Results No mutations were found at exon 4, and nucleotide substitutions occurred at relatively high frequencies at exon 6 of breast cancer patients （68/85,68.24%）, benign patients （20/30,66.67%） and health controls （ 33/50,66.00% ） ,but there were no differences among three groups （ P 〉 0.05 ）. The frequency of nucleotide substitutions at exon 6 in 43 （82.69） out of 52 cases of obesity-weight gain from breast cancer group was significantly higher than that in 17 cases （51.52% ） of normal controls （X^2 = 12.89, P 〈 0.01 ）. Conclusion There was no relationship between the variations of leptin receptor genes at exon 4 and exon 6 and breast cancer. The variation rate of leptin receptor gene at exon 6 was increased significantly in the patients with breast cancer of obesity and weight gain.

关 键 词：乳腺癌 瘦素受体 基因变异 体重指数 

分 类 号：R737.9[医药卫生—肿瘤]