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1.
目的探讨CCND1基因G870A多态性与食管癌易感性的关系。方法依据Pub Med和EMBASE数据库,检索CCND1基因G870A多态性与食管癌易感性关系的病例-对照研究,通过meta分析方法合并G870A基因型与食管癌发病风险关系的OR值,然后进行异质性分析、亚组分析和发表偏倚检验。结果纳入符合标准的文献有8项研究,共包括1252例病例和1764例对照,采用固定效应模型和随机效应模型发现,G870A在共显性和隐性模型下与食管癌的易感性有关。人群种族分层发现,在亚洲人群中,G870A多态性位点更能够增加罹患食管癌的危险性。结论 CCND1基因G870A位点多态性可能是食管癌的危险因素之一。  相似文献   

2.
TNF-α基因启动子多态性与HBV感染转归的关系   总被引:1,自引:0,他引:1  
目的:探讨中国汉族人肿瘤坏死因子-α(tumor necrosisfactor-α,TNF-α)基因启动子单核苷酸多态性与乙型肝炎病毒(hepatitis B virus,HBV)感染结果之间的关系.方法:慢性乙型肝炎患者131例,HBV感染自愈者165组应用聚合酶链反应-限制性片段长度多态性分析方法,检测HBV感染自愈者和慢性乙型肝炎患者TNF-α基因启动子-238G/A,-308G/A,-857C/T和-863C/A单核苷酸多态性位点基因型.结果:对慢性乙型肝炎组和HBV感染自愈组人群TNF-α基因启动子区域的-238G/A,-308G/A,-857C/T和-863C/A 4个SNP位点进行基因型分析,共发现12种启动子基因型,以GG·GG·CC·CC,GG·GG·CC·CA,GG·GG·CT·CC和GG·GA·CC·CC基因型多见,约占85%.通过对慢性乙型肝炎患者和HBV感染自愈者TNF-α基因启动子4个位点基因型联合分析发现,GG·GG·CC·CC,GG·GG·CC·CA和GG·GA·CC·CC基因型在慢性乙型肝炎组和HBV感染自愈组分布差异有显著性,其中携带GG·GG·CC·CC基因型的个体患慢性乙型肝炎的机会比(odds ratio,OR)为2.15,95%可信区间为1.34-3.45;而携带GG·GG·CC·CA或GG·GA·CC·CC基因型的个体患慢性乙型肝炎的OR分别为0.48(95%可信区间为0.27-0.86)和0.35(95%可信区间为0.14-0.89).HBV感染的清除可能与GG·GG·CC·CA(X2=6.14,P=0.013<0.05)和/或GG·GA·CC·CC(X2=5.18,P=0.023<0.05)基因型有关.进一步对各位点单核苷酸多态性分析发现,慢性乙型肝炎患者和HBV感染自愈者TNF-α基因启动子-238G/A、-857C/T位点基因型分布频率差异无显著性,而-308G/A,-863C/A位点基因型分布频率差异有显著性(-308G/A位点,X2=6.53,P=0.011<0.05,OR=3.05;-863C/A位点,X2=4.33,P=0.037<0.05,OR=1.69).结论:TNF-α基因启动子-308G/A、-863C/A位点多态性与中国汉族人HBV感染后的结果有关,其中TNF0-α308G/A和/或-863C/A位点A等位基因的存在可能有利于HBV感染的清除.  相似文献   

3.
CCND1基因A870G多态与结直肠癌遗传易感性的相关性   总被引:3,自引:0,他引:3  
目的:探讨CCND1基因A870G多态与上海地区人群结直肠癌(colorectal cancer, CRC)遗传易感性的关系.方法:采用TaqMan MGB探针实时定量PCR法.检测104例CRC与205名对照人群CCND1A870G基因型分布及差异.结果:CRC组和对照组870A等位基因频率分别为60.1%和52.4%,A的CRC发病风险是G的1.40倍(95%CI=0.99-1.97,P=0.057).与GG基因型相比,GA基因型的CRC风险增加至1.99倍(95%CI=0.94-4.20,P=0.070),而AA基因型的CRC风险显著增加至2.46倍(95%CI=1.09-5.56,P=0.031).将GA、AA基因型合并计算,则其CRC发病风险与GG基因型相比呈相似的显著性增加(OR=2.13,95%CI=1.03-4.39,P=0.040).结论:CCND1 870A增加CRC发病风险,可作为这一地区CRC高危人群的筛选指标.  相似文献   

4.
白细胞介素6基因多态性与原发性高血压的关系   总被引:1,自引:1,他引:1  
目的 :探讨白细胞介素 6 (IL 6 )基因 - 5 97G/A和 - 5 72C/G多态性与湖北地区汉族人群原发性高血压 (EH)的关系。方法 :以人群为基础进行EH病例 对照研究 ,应用PCR RELP技术对 10 2例EH患者和 112例正常对照者的IL 6基因 - 5 97G/A和 - 5 72C/G多态性进行分析。结果 :湖北地区汉族人群IL 6基因 - 5 97位点仅发现有GG基因型 ,未见GA和AA基因型 ;- 5 72位点以CC和CG基因型占优势。EH组 - 5 72CG +GG基因型频率及G等位基因频率分别为 5 9%和 34% ,均显著高于对照组 (P <0 .0 1) ;相对于CC基因型 ,暴露于CG基因型、GG基因型的相对危险度分别为 2 .0 2 (95 %CI:1.15~ 3.5 7,P <0 .0 5 )和 7.12 (95 %CI:2 .18~ 2 3.2 0 ,P<0 .0 1)。EH组不同基因型间总胆固醇、三酰甘油、血糖、体重指数差异均无显著性意义 (P >0 .0 5 )。结论 :湖北地区汉族人群可能不存在IL 6基因 - 5 97G/A多态性 ,而 - 5 72位点CG +GG基因型可能是此人群EH的易感基因型  相似文献   

5.
目的探讨乙型肝炎病毒感染引起的慢加急性肝衰竭患者血IFN-γ基因多态性。方法采用单核苷酸多态性(SNP)技术检测51例ACLF患者和50例健康人血IFN-γ基因内含子+874位点T/A和+2109位点A/G单核苷酸多态性。结果 ACLF患者+874位点TA+AA基因型频率(54.9%)显著高于健康人(24.0%),A等位基因频率(38.2%)显著高于健康人(22.0%,P0.05);ACLF组+2109位点AG+GG型基因型频率(51.0%)显著高于健康人(26.0%),G等位基因(32.4%)显著高于健康人(16.0%,P0.05);在3 m末,28例生存与23例死亡的ACLF患者+874、+2109位点等位基因和基因型频率分布无显著性差异(P0.05)。结论 IFN-γ基因+874位点A等位基因和基因型、+2109位点G等位基因和基因型是ACLF的遗传易感基因。  相似文献   

6.
目的探讨DNMT3B基因启动子-579G/T单核苷酸多态性与佳木斯地区人群肺癌易感性的相关性。方法选取98例肺癌患者及105例健康人的外周血,提取全基因组DNA,运用PCR-RFLP结合DNA测序技术检测DNMT3B基因启动子-579G/T单核苷酸多态性在各组中基因型的分布。结果正常对照组DNMT3B-579G/T基因型GG/GT/TT的频率分别为0/24%/76%,病例组基因型GG/GT/TT分别为0/21%/79%。携带有SNP(-579G/T)G→T转换的个体患肺癌的易感性病例组与对照组相比,未见显著性差异(P=0.991 3,OR=1.003 6,95%CI:0.521 61.931 0)。结论 DNMT3B基因启动子区-579G/T多态性位点不能作为佳木斯地区人群肺癌易感性的一个独立风险因素。  相似文献   

7.
目的探讨肝细胞癌(HCC)患者白细胞介素-18(IL-18)基因-137G/C和-607A/C位点单核苷酸多态性(SNP)的变化。方法在178例伴有HBV感染的HCC患者和251例健康人,取外周静脉血提取DNA,采用聚合酶链反应-连接酶检测反应(PCR-LDR)行基因分型,测定IL-18基因-137G/C和-607A/C位点SNP。结果 HCC患者和健康人IL-18-37 G/C基因GG基因型、GC基因型和CC基因型分布频率分别为75.3%对47.0%(P0.05)、20.8%对51.4%(P0.05)和3.9%对1.6%(P0.05),G等位基因和C等位基因分布频率分别为93.6%对72.7%(P0.05)和6.4%对27.3%(P0.05);HCC患者和健康人IL-18-607A/C位点AA基因型、AC基因型和CC基因型分布频率分别为37.6%对13.5%(P0.05)、43.3%对66.9%(P0.05)和19.1%对19.5%(P0.05),A等位基因和C等位基因分布频率分别59.3%对47.0%(P0.05)和40.7%对53.0%(P0.05);HCC组IL-18-137G/C位点的GG基因和G等位基因频率显著高于健康人(P0.05),HCC组IL-18-607A/C位点的AA基因和A等位基因频率也显著高于健康人(P0.05),提示携带IL-18-137G/C和IL-18-607A/C位点基因型和A等位基因者罹患HCC的风险增加。结论携带IL-18基因-137G/C位点GG基因型和G等位基因以及-607A/C位点AA基因型和A等位基因者可能更容易发生HCC,对HBV感染者筛查这些基因可能有助于早期发现肝肿瘤,以利于早期处理和改善预后。  相似文献   

8.
目的初步探讨前列腺干细胞抗原(PSCA基因)rs2976392位点多态性与青海藏族人群胃癌的相关性。方法对60例藏族胃癌患者(胃癌组)与60例查体健康者(对照组)采用dHPLC方法行PSCA基因rs2976392位点分型。结果胃癌组G/A基因型频率明显高于对照组,P〈0.05;两组A/A与G/G基因型频率比较无显著差异。结论 PSCA基因rs2976392位点多态性可能与青海地区藏族人群胃癌易感性相关;携带G/A型基因型者胃癌发生的危险性增加。  相似文献   

9.
目的 探讨中国四川地区汉族人群脂联素基因(APM1)单核苷酸多态性(SNP)和2型糖尿病(T2DM)及其血脂水平的关联性.方法 研究对象819例,包括对照组405例,T2DM组414例.测定血脂水平和腰臀比值(WHR);稳态模型(HOMA)计算胰岛素抵抗(IR)指数.PCR-RFLP和基因测序方法鉴定2号内含子(IVS2)+712A/G和+349A/G多态性.结果 APM1基因IVS2+712A/G位点GG基因型与(AA+AG)基因型在对照组与T2DM组内的分布差异有统计学意义(P<0.05),T2DM组内GG基因型患者血浆总胆固醇(TC)和低密度脂蛋白(LDL)值均高于(AA+AG)基因型(P<0.05);IVS2+349A/G位点各基因型及等位基因频率在对照组与T2DM组内的分布差异无统计学意义(P>0.05),两组内各基因型间血脂水平差异无统计学意义(P>0.05);IVS2+712A/G与IVS2+349A/G存在强的连锁不平衡(D′=0.893).结论 APM1基因IVS2+712A/G位点GG基因型与T2DM及其血浆TC和LDL水平升高关联,A→G多态性提高了T2DM合并血脂代谢紊乱的风险性;IVS2+349A/G与+712A/G紧密连锁.  相似文献   

10.
背景:大量研究表明,肠化生、异型增生为胃癌的癌前病变。Toll样受体1(TLR1)基因多态性与多种疾病的发生相关,但与胃癌癌前病变关系的研究少见。目的:探讨TLR1基因rs4833095位点多态性与胃癌癌前病变的相关性。方法:选取2008年12月—2014年12月青岛市市立医院432例胃癌癌前病变患者(包括上皮内瘤变84例、肠化生348例),同时以540名健康志愿者作为对照。采用DNA测序法检测TLR1基因rs4833095位点基因型,评估幽门螺杆菌(Hp)感染状态。以多因素Logistic回归模型分析TLR1基因多态性与胃癌癌前病变的关系。结果:病例组TLR1基因rs4833095位点GG、GA、AA基因型频率与对照组相比差异有统计学意义(χ~2=19.966,P=0.000),病例组AA基因型频率明显高于对照组(17.6%对8.9%;χ~2=16.336,P=0.000)。多因素Logistic回归分析显示,与GG基因型相比,携带AA基因型者胃癌癌前病变的发病风险明显增加(OR=1.329,95%CI:1.002~1.762)。与GG+GA基因型且未感染Hp的患者相比,携带AA基因型并感染Hp者发生胃癌癌前病变的风险明显增加(OR=3.617,95%CI:2.147~6.092)。结论:TLR1 rs4833095基因多态性与胃癌癌前病变发病风险呈正相关。  相似文献   

11.
Objective. Cyclin D1 (CCND1) is a regulatory protein involved in the cell cycle of both normal and neoplastic cells. Polymorphism of this gene at codon 242 in exon 4 (A870G) has an impact on the risk of several human cancers. The purpose of this study was to study the relation between the CCND1 A870G gene polymorphism and the risk of non-cardiac gastric cancer in a Chinese population. Material and methods. The study population consisted of 159 patients with non-cardiac gastric cancer and 162 cancer-free controls. CCND1 870A/G polymorphism was genotyped by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay and sequencing. Results. CCND1 genotype distribution among the patients was significantly different from that among controls; AA (odds ratio (OR)=0.348, 95% CI: 0.163–0.742) and GA (OR=0.715, 95% CI: 0.506–1.012) genotypes were significantly lower in the gastric cancer patients than in the controls when subjects with the GG genotype served as the reference category. In other words, the risk of gastric cancer for subjects with the GG genotype was 2.8 times that of subjects with the AA genotype, and 1.4 times that of subjects with the GA genotype. Furthermore, in the stratification analyses, the risk of GG genotype was more evident in subjects ≥60 years of age and those positive for Helicobacter pylori (H. pylori) infection. Conclusions. The CCND1870 GG genotype is associated with an increased risk for non-cardiac gastric cancer in patients in a high-risk area of China. Larger studies with multiple polymorphisms are needed to verify this finding and the function of this polymorphism needs to be further investigated.  相似文献   

12.
目的 分析白细胞介素(IL)-17F A7488G(p.His161Arg)多态性与广东地区胃癌遗传易感性及其与胃癌患者临床病理学特征和预后的关系.方法 采用聚合酶链反应-跟制性片段长度多态性(PCR-RFLP)法分析927例胃癌患者及777名健康对照者的IL-17F A7488G多态性,采用Logistic回归法和Cox比例风险法研究其对不同临床病理学特征的胃癌发病风险的影响并进行生存分析.结果 IL-17F A7488G基因型频率在胃癌患者与健康对照人群间差异有统计学意义(X2=16.55,P<0.01).与AA纯合子相比,IL-17F A7488G杂合变异基因型(GA)及纯合变异基因型(GG)显著增加胃癌的发病风险,OR值分别为1.51和1.61(95%CI分别为1.22~1.87和1.03~2.51,P值均<0.01).与AA携带者相比,携带G(GA或GG)等位基因者发生胃癌的风险显著增加(OR=1.53,95%CI:1.25~1.87,P<0.01).按临床病理特征行分层分析显示,IL-17F A7488GGA基因型与肠型、低中分化、非贲门癌、淋巴结转移等的发病风险增加有关.IL-17F A7488G不同基因型患者间生存率差异无统计学意义(P=0.534).结论 广东地区IL-17F A7488G多态性与胃癌易感性有关,IL-17F A7488G变异基因型增加胃癌的发病风险,但不是影响胃癌患者预后的危险因素.  相似文献   

13.
流行病学研究表明髓过氧化物酶(MPO)-463G→A多态性与多种疾病相关.目的:探讨MPO基因多态性与胃癌易感性之间的关系.方法:应用PCR-RFLP检测117例胃癌患者和105例对照者的MPO-463G→A多态性,比较两组MPO基因型频率和等位基因频率,分析MPO基因多态性与胃癌危险性的关系,并行分层分析探讨性别、年龄、吸烟状况、幽门螺杆菌(H.pylori)感染和胃癌家族史对胃癌的影响.结果:胃癌组GA和 AA基因型频率显著低于对照组(GA:25.6%对37.1%,AA:3.4%对11.4%,P〈0.05),A等位基因频率亦明显降低(16.2%对30.0%,P〈0.05).与GG基因型患者相比,携带MPO-463GA/AA基因型者罹患胃癌的危险性明显降低(OR=0.43,95% CI:0.25-0.75).分层分析示男性、年龄≤60岁、不吸烟、H.pylori感染阴性和无胃癌家族史人群携带GA/AA基因型较携带GG基因型者罹患胃癌的危险性降低.结论:MPO基因多态性与胃癌易感性相关,A等位基因对胃癌易感性具有保护作用.  相似文献   

14.
背景:Runt相关转录因子3(RUNX3)基因多态性与亚洲人群胃癌的发生相关。目的:初步探讨RUNX3基因rs2236852多态性与中国汉族人群胃癌发病风险之间的关系。方法:选取2011年3月~2013年4月青岛大学医学院附属青岛市市立医院确诊的310例胃癌患者,以327名健康者作为对照。采用DNA直接测序法检测RUNX3rs2236852位点基因型,并分析其与胃癌发病风险之间的关系。结果:胃癌组RUNX3 rs2236852基因型分布频率与对照组相比差异有统计学意义(P<0.05)。与AA基因型相比,GG基因型能显著增加胃癌的发病风险(OR=2.46,95%CI:1.60~3.78);AG基因型可增加胃癌发病风险,但差异无统计学意义(OR=1.58,95%CI:0.99~+2.54)。结论:RUNX3 rs2236852位点GG基因型可能与中国汉族人群的胃癌发病有关。  相似文献   

15.
Luo D  Gao Y  Wang S  Wang M  Wu D  Wang W  Xu M  Zhou J  Gong W  Tan Y  Zhang Z 《Journal of gastroenterology》2011,46(11):1260-1266

Background

Two genome-wide association studies on gastric cancer showed a previously unknown gastric cancer susceptible locus in PLCE1 at 10q23. We hypothesized that the single nucleotide polymorphism (SNP) rs2274223 A/G is associated with the survival rate of gastric cancer.

Methods

We genotyped the above SNP in 940 gastric cancer patients to investigate the association between the polymorphism and gastric cancer survival by the TaqMan method.

Results

We found that patients carrying PLCE1 rs2274223 AA genotype survived for a significantly shorter time than those carrying the AG and GG genotypes (log-rank P?=?0.046). This significance was enhanced in the dominant model (AA vs. AG/GG, log-rank P?=?0.014). Multivariate Cox regression analyses showed that the AG/GG genotypes were associated with a significantly decreased risk of death from gastric cancer [adjusted hazard ratio (HR)?=?0.79, 95% confidence interval (CI)?=?0.65?C0.95]. Most of stratification analysis did not find an enhanced association between the same genotype and prognosis, except for patients with TNM stage III disease (HR?=?0.63, 95% CI?=?0.48?C0.83).

Conclusion

Our findings showed that the PLCE1 SNP rs2274223 was associated with significantly improved gastric cancer survival in a Chinese population. Further functional studies are needed to validate our results.  相似文献   

16.
Purpose: To investigate whether the common cyclin D1 (CCND1) A870G polymorphism is a risk factor for colorectal cancer (CRC) in an Indian population. Methods: In this study, 301 newly diagnosed CRC patients and 291 healthy control subjects were genotyped by the PCR-RFLP method. Genotype frequencies were compared between cases and controls, and the association of genotypes with CRC was studied. Results: The CCND1 870 A allele was more frequently observed in CRC patients than controls (0.63 vs. 0.56, P=0.01), and after adjustment for age, sex, smoking habits, family history, family income and the consumption of meat, fish, vegetables and fruit, an increased risk was observed for the AA genotype compared to the GG+AG genotype (OR=1.56; 95% CI: 1.10–2.21). The increased risk were also found for colon (OR=1.96; 95% CI: 1.08–3.57) and rectal cancer (OR=1.51; 95% CI: 1.04–2.19). No correlation was observed between genotypes and age of diagnosis of CRC (49.9, 48.7 and 49.4 years for the GG, AG and AA genotypes, respectively; P=0.84). Multivariate analysis also revealed a stronger positive association with the AA genotype among patients with high meat intake (OR=2.67; 95% CI: 1.29–5.51), and particularly significant inverse associations with the GG+AG genotypes were also found for those with high vegetable consumption (OR=0.46; 95% CI: 0.27–0.79 of 2–3 servings/day, and OR=0.31; 95% CI: 0.18–0.53 for >3 servings/day) and fish intake (OR=0.48; 95% CI: 0.28–0.82). Conclusion: These data support the hypothesis that the CCND1 A870G polymorphism may increase the risk of CRC in our Indian population.  相似文献   

17.
AIM: To test the hypothesis that E-cadherin gene (CDH1) C-160A promoter variant genotype is associated with an increased risk for developing gastric cancer. METHODS: In this population-based case-control study of gastric cancer in Jiangsu Province, China, we performed polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to genotype the C-160A polymorphism of CDH1 promoter in 206 non-cardia gastric cancer patients and 261 age- and sex-matched but unrelated cancer-free controls. RESULTS: The frequencies of genotypes CC, CA and AA were 57.8%, 36.4% and 5.8% in gasfric cancer cases, respectively, and 58.2%, 34.9% and 6.9% in controls respectively. The distributions of CDH1 genotypes were not significantly different between gastric cancer cases and controls (P=0.87 for genotype frequency and P=0.92 for allele frequency). Compared with the CC genotype, the CA and AA genotypes were not associated with an increased risk for non-cardia gastric cancer (adjusted odds ratios (OR)=1.15, and 95% confidence interval (95% CI)=0.78-1.72 for CA genotype, and OR = 0.90 and 95% CI = 0.42-2.01 for AA genotype). CONCLUSION: E-cadherin gene C-160A promoter polymorphism may not play a major role in the etiology of non-cardia gastric cancer in Chinese population.  相似文献   

18.
Song JH  Kim CJ  Cho YG  Park YK  Nam SW  Yoo NJ  Lee JY  Park WS 《Neoplasma》2007,54(3):235-239
Cyclin D1 is a key cell cycle regulator that is upregulated in gastric cancer. The common G870A polymorphism of cyclin D1 which can influence cancer susceptibility and disease outcome has been the most frequently investigated. The specific aim of this study is to investigate whether the G870A polymorphism of cyclin D1 was associated with individual susceptibility to gastric cancer in Korea. The frequency of the polymorphism was examined in 253 gastric cancer patients and 442 healthy controls. Polymorphism analysis was performed by amplifying exon 4 of cyclin D1 and sequencing the products. The frequencies of genotypes: G/G, G/A and A/A were 28.1% (71/253), 49.4% (125/253) and 22.5% (57/253), respectively, in gastric cancer cases, and 23.1%, 51.1% and 25.8%, respectively, in healthy controls. Statistically, the polymorphism was not associated with increased risk of gastric cancer. When stratified by histological subtype of gastric cancer, the risk was also not statistically significant. However, the male gastric cancer patients showed a significantly higher proportion of the homozygous G/G genotype and the G allele (Chi-Square test, P = 0.0242 & P = 0.0307) compared to males in the control group. Thus, our findings suggested that the G870A polymorphism of cyclin D1 was not associated with an increased risk for gastric cancer in this population, however, it may contribute to susceptibility to gastric cancer in men.  相似文献   

19.
20.
人端粒酶逆转录酶(hTERT)作为端粒酶的关键酶参与了包括胃癌在内的多种肿瘤的发生和发展,有研究发现该基因的多个单核苷酸多态性(SNP)位点与多种恶性肿瘤具有不同程度的相关性。目的:探讨hTERT基因rs2853676和rs2853677位点SNP与胃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(PCR-RFLP)法检测297例胃癌、105例萎缩性胃炎和402例对照组患者rs2853676和rs2853677位点的基因多态性,采用病理学检查和~(13)C-尿素呼气试验检测幽门螺杆菌(Hp)感染。结果:胃癌组rs2853676位点AA基因型频率显著高于对照组(15.2%对6.5%,P=0.01),AA基因型携带者患胃癌的风险增加2.47倍(95%CI:1.46~4.16)。三组rs2853677位点CC、TC、TT基因型频率差异无统计学意义。与对照组相比,萎缩性胃炎组和胃癌组Hp感染率显著升高(64.8%、56.9%对40.3%,P均0.01),OR值分别为2.73(95%CI:1.74~4.26)、1.96(95%CI:1.44~2.67)。Logistic回归分析发现,Hp感染与基因突变无明显交互作用。结论:hTERT基因rs2853676基因多态性与胃癌遗传易感性有关,其增加胃癌的风险与Hp感染可能无关。  相似文献   

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