浙江中西医结合杂志
浙江中西醫結閤雜誌
절강중서의결합잡지
ZHEJIANG JOURNAL OF INTEGRATED TRADITIONAL CHINESE AND WESTERN MEDICINE
2014年
11期
960-963
,共4页
宫颈癌%乳腺癌易感基因相互作用蛋白1基因%单核苷酸多态性
宮頸癌%乳腺癌易感基因相互作用蛋白1基因%單覈苷痠多態性
궁경암%유선암역감기인상호작용단백1기인%단핵감산다태성
cervical cancer%BRCA1-interacting protein 1%single nucleotide polymorphisms
目的：探讨乳腺癌易感基因相互作用蛋白1基因（BRIP1）功能区5个单核苷酸多态性（SNP）位点与宫颈癌的相关性。方法严格按照诊断标准，采集无亲缘关系宫颈癌患者309例（病例组）及健康体检者（对照组）315名静脉血，提取基因组DNA，采用基质辅助激光解吸电离飞行时间质谱技术检测5个SNP的基因型，采用SPSS11.5及Haploview4.2软件分析各基因型、等位基因及单倍型频率在两组中的差异。结果宫颈癌组与正常对照组的BRIP1基因rs4986764（外显子18）及rs7213430（3'非翻译区）位点基因型及等位基因频率分布差异有统计学意义（P<0.05）。宫颈癌组rs4986764位点C等位基因频率显著高于对照组（P=0.036，OR=1.294，95%=1.017~1.647）；宫颈癌组 rs7213430位点 A 等位基因频率显著高于对照组（P=0.003，OR=1.435，95%CI=1.133~1.818）。连锁不平衡分析发现一个单倍型（rs11079454-rs7213430-rs4986763）高度连锁（D'>0.9），宫颈癌组T-A-C单倍型频率显著高于对照组（P=0.018）。结论 BRIP1基因功能区rs4986764及rs7213430 SNP位点可能与宫颈癌有关，携带有rs4986764 C等位基因及rs7213430 A等位的个体可能更容易患宫颈癌。
目的：探討乳腺癌易感基因相互作用蛋白1基因（BRIP1）功能區5箇單覈苷痠多態性（SNP）位點與宮頸癌的相關性。方法嚴格按照診斷標準，採集無親緣關繫宮頸癌患者309例（病例組）及健康體檢者（對照組）315名靜脈血，提取基因組DNA，採用基質輔助激光解吸電離飛行時間質譜技術檢測5箇SNP的基因型，採用SPSS11.5及Haploview4.2軟件分析各基因型、等位基因及單倍型頻率在兩組中的差異。結果宮頸癌組與正常對照組的BRIP1基因rs4986764（外顯子18）及rs7213430（3'非翻譯區）位點基因型及等位基因頻率分佈差異有統計學意義（P<0.05）。宮頸癌組rs4986764位點C等位基因頻率顯著高于對照組（P=0.036，OR=1.294，95%=1.017~1.647）；宮頸癌組 rs7213430位點 A 等位基因頻率顯著高于對照組（P=0.003，OR=1.435，95%CI=1.133~1.818）。連鎖不平衡分析髮現一箇單倍型（rs11079454-rs7213430-rs4986763）高度連鎖（D'>0.9），宮頸癌組T-A-C單倍型頻率顯著高于對照組（P=0.018）。結論 BRIP1基因功能區rs4986764及rs7213430 SNP位點可能與宮頸癌有關，攜帶有rs4986764 C等位基因及rs7213430 A等位的箇體可能更容易患宮頸癌。
목적：탐토유선암역감기인상호작용단백1기인（BRIP1）공능구5개단핵감산다태성（SNP）위점여궁경암적상관성。방법엄격안조진단표준，채집무친연관계궁경암환자309례（병례조）급건강체검자（대조조）315명정맥혈，제취기인조DNA，채용기질보조격광해흡전리비행시간질보기술검측5개SNP적기인형，채용SPSS11.5급Haploview4.2연건분석각기인형、등위기인급단배형빈솔재량조중적차이。결과궁경암조여정상대조조적BRIP1기인rs4986764（외현자18）급rs7213430（3'비번역구）위점기인형급등위기인빈솔분포차이유통계학의의（P<0.05）。궁경암조rs4986764위점C등위기인빈솔현저고우대조조（P=0.036，OR=1.294，95%=1.017~1.647）；궁경암조 rs7213430위점 A 등위기인빈솔현저고우대조조（P=0.003，OR=1.435，95%CI=1.133~1.818）。련쇄불평형분석발현일개단배형（rs11079454-rs7213430-rs4986763）고도련쇄（D'>0.9），궁경암조T-A-C단배형빈솔현저고우대조조（P=0.018）。결론 BRIP1기인공능구rs4986764급rs7213430 SNP위점가능여궁경암유관，휴대유rs4986764 C등위기인급rs7213430 A등위적개체가능경용역환궁경암。
Objective To investigate the association between 5 single nucleotide polymorphisms (SNP) of the BRCA1-interacting protein 1 (BRIP1) and the risk of cervical cancer. Methods The participants enrolled in this study included 309 patients with cervical cancer and 315 healthy women as healthy controls. Blood samples were drawn from these participants to collect BRIP1 gene DNA;then 5 SNPs (rs2048718, rs4986764, rs4986763, rs11079454, rs7213430) of the BRIP1 gene was analyzed by using the MassARRAY system and compared by SPSS11.5 and Haploview 4.2 software. Results The genotype and allele frequency of rs4986764 (exon 18) and rs7213430(3'UTR) were significantly different between patients with cervical cancer and healthy controls(P<0.05). Compared with healthy controls, patients with cervical cancer had higher frequency of rs4986764 C allele(P=0.036, OR=1.294, 95%CI: 1.017-1.647)and rs7213430 A allele(P=0.003, OR=1.435, 95%CI: 1.133-1.818). Strong linkage disequilibrium was observed in one block (D'>0.9), and more T-A-C haplotypes (block 1) were found in patients with cervical cancer (P=0.018). Conclusion These findings indicates that the BRIP1 gene polymorphisms (rs4986764 and rs7213430) may be related to cervical cancer. The rs4986764 C allele and rs7213430 A allele may be the risk factor for cervical cancer.
