线粒体DNA np16519和D310区多态性与乳腺癌遗传易感性研究  

The Association between mtDNA np16519,D310 Region Polymorphisms and Breast Cancer

作　　者：杨丽[1] 墙华[2] 郭卫东[3] 焦海燕[4,5,6] 

机构地区：[1]宁夏医科大学总医院医学实验中心,银川750004 [2]宁夏医科大学第二附属医院肿瘤外科,银川750001 [3]宁夏医科大学总医院肿瘤医院,银川750004 [4]宁夏医科大学医学遗传学与细胞生物学系,银川750004 [5]宁夏回族自治区生殖与遗传重点实验室,银川750004 [6]生育力保持省部共建教育部重点实验室,银川750004

出　　处：《宁夏医科大学学报》2013年第10期1087-1090,共4页Journal of Ningxia Medical University

基　　金：银川市科技攻关项目[银财发(2010)452号]

摘　　要：目的探讨mtDNA(mitochondrial DNA)np16519和D310区多态性及其单倍型与乳腺癌遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restricted fragment length polymorphism,PCR-RFLP)技术对195例乳腺癌患者和196例对照的mtDNA np16519和D310区基因型进行检测,分析其与乳腺癌的相关性。结果 mtDNA np16519基因型频率在两组中的分布差异无统计学意义(P>0.05);mtDNA D310区野生型和突变型频率在两组中的分布差异无统计学意义(P>0.05);异质型频率在两组中的分布差异有统计学意义(χ2=4.784,P=0.036),携带异质型的个体发生乳腺癌的危险性增高,OR值为3.846,95%CI为1.065~14.006;mtDNA np16519和D310区构建的单倍型频率在两组中的分布差异无统计学意义(P>0.05)。结论 mtDNA np16519多态性与宁夏汉族乳腺癌无相关性。mtDNA D310区异质型可能是宁夏汉族乳腺癌的易感因素。Objective To investigate the associations between mtDNA np16519,D310 region polymorphisms and breast cancer in Ningxia Han population. Methods A total of 195 sporadic breast cancer patients and 196 healthy controls were recruited from the affiliated hospital of Ningxia medical university from Nov. 2010 to Sep. 2011. The average age of two groups were( 48. 58 ± 10. 08) and( 47. 16 ± 9. 68) years respectively. The PCR- based RFLP assays were conducted to determine the genotype of np16519 and D310 region. The Odds ratio( OR) and 95% confidence interval( CI) were used to estimate the association between risk and breast cancer. Statistical analysis included chi- square test. SHEsis software was used to analyzed the haplotypes that composed by two sites. Results ① No significant difference of np16519 genotype distribution were found between the two groups( P > 0. 05). ②No significant difference of wild genotype and mutated genotype distribution in D310 region were found between the two groups( P > 0. 05). There was significant difference of heteroplasmy genotype distribution in D310 region between the two groups( P < 0. 05). The samples which carried with heteroplasmy genotype had an increased risk of breast cancer,and the OR for heteroplasmy genotype was 3. 846( 1. 065 ~ 14. 006). ③No significant difference of haplotypes distribution were found between the two groups( P > 0. 05). Conclusion ① mtDNA np16519 polymorphysims may not be associated with breast cancer in Ningxia Han population. ②D310 region heteroplasmy genotype may be associated with breast cancer in Ningxia Han population.

关 键 词：线粒体DNA np16519 D310 多态性 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]