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1.
Purpose  The aim of the study was to evaluate the association of CYP1A1 and CYP1B1 polymorphisms with uterine leiomyoma in Chinese women. Methods  We investigated 100 women with clinically diagnosed uterine leiomyoma and 110 healthy normal subjects from Chinese women. The genetic distribution of two CYP1A1 polymorphisms at MspI, Ile462Val and four CYP1B1 polymorphisms at Arg48Gly, Ala119Ser, Leu432Val, Asp449Asp were analyzed by polymerase chain reaction–restriction fragment length polymorphism and DNA sequencing method. Results  All the SNPs showed polymorphisms in Chinese women. The genotype A/G and the allele G on Ile462Val was significantly different between uterine leiomyoma patients and controls (P < 0.05). Conclusion  These results suggest that the genotype of CYP1A1 Ile462Val was associated with the increased risk of uterine leiomyomas in Chinese women. Capsule This is the first report that demonstrates the polymorphism at Ile462Val of CYP1A1 to be associated with uterine leiomyoma in Chinese women.  相似文献   

2.

Aim

Increasing scientific evidences suggest that common polymorphisms in the CYP1A1 and CYP11A1 genes may contribute to the development and progression of polycystic ovary syndrome (PCOS), but many existing studies have yielded inconclusive results. The aim of this study was to perform a meta-analysis of published studies on the associations between common polymorphisms in the CYP1A1 and CYP11A1 genes and susceptibility to PCOS.

Methods

An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from their inception through 1 June, 2013. This meta-analysis was performed using the STATA 12.0 software. The crude risk ratio (RR) with 95 % confidence interval was calculated.

Results

Thirteen case–control studies were included in this meta-analysis with a total of 1,571 PCOS cases and 1,918 healthy controls. Our meta-analysis revealed that CYP1A1 MspI (rs4646903 T > C) polymorphism may increase the risk of PCOS, especially among Caucasian populations. Furthermore, CYP11A1 microsatellite [TTTA]n repeat polymorphism also showed significant associations with increased risk of PCOS among Caucasian populations. However, there was no statistically significant association between CYP1A1 Ile462Val (rs1048943 A > G) polymorphism and PCOS risk.

Conclusion

Our meta-analysis suggests that CYP1A1 MspI and CYP11A1 microsatellite [TTTA]n repeat polymorphisms may contribute to increasing susceptibility to PCOS among Caucasian populations. Detection of common polymorphisms in the CYP1A1 and CYP11A1 genes might be promising biomarkers for the diagnosis and prognosis of PCOS.  相似文献   

3.
Herein, we investigated potential associations between polymorphisms of genes related to estrogen metabolism and bone mineral density (BMD) in postmenopausal women. This was a cross-sectional study, in which two hundred and ninety postmenopausal Mexican-Mestizo women were studied. The BMD of the lumbar spine (LS), total hip (TH), and femoral neck (FN) was measured. The distribution of the genetic polymorphisms, including rs1799814 and rs1048943 at CYP1A1 as well as rs1056836 at CYP1B1, were analyzed by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP), single-stranded conformational polymorphism (SSCP), and DNA sequencing. Deviations from Hardy–Weinberg equilibrium (HWE) were tested, and linkage disequilibrium (LD) was calculated by direct correlation (r2). Moreover, haplotype analysis was performed. All polymorphisms were in HWE. The genotype and allele distributions of the three single nucleotide polymorphisms (SNPs) studied showed no significant differences. However, statistical significance was reached when constructing haplotypes. The CG haplotype in CYP1A1 was associated with variations in LS and FN BMD after adjustment for covariates (p?=?0.021 and 0.045, respectively), but the association with TH BMD was not significant. These results suggested that the CG haplotype in CYP1A1 may play an important role in the mechanism of osteoporosis and may be useful as a genetic marker.  相似文献   

4.

Purpose  

The purpose of this study was to evaluate the associations between polymorphisms in vitamin D receptor (VDR), parathyroid hormone (PTH), calcium sensing receptor (CASR), insulin receptor (INSR), and adiponectin (ADIPOQ) genes and biochemical characteristics of women with polycystic ovary syndrome (PCOS).  相似文献   

5.

Purpose

Polycystic ovary syndrome (PCOS) is a common endocrine disorder disease among women in reproductive-age. Since follicle stimulating hormone (FSH) exerts important biological functions, the association between PCOS and FSH receptor (FSHR) polymorphisms attracts wide attention. The aim of this study was to evaluate whether polymorphisms of FSHR at 307 and 680 codons are associated with PCOS patients in China.

Methods

Patients with PCOS (n = 215) and controls (n = 205) were recruited from Shanxi Province in north China. They are Han ethnics. Genomic DNA was isolated from the venous blood. The Ala307Thr and Ser680Asn polymorphisms of FSHR were analyzed by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and direct DNA sequencing.

Results

The distributions of genotype and allele of Ala307Thr and Ser680Asn polymorphisms of FSHR were not statistically different between the PCOS patients and the controls. Analysis of the frequency of FSHR polymorphisms showed no statistical difference among the PCOS patients with different obesity standards. Although there were no statistical differences in the most of the endocrine parameters including LH, LH/FSH, E2, P and T as well as the clinical pregnancy rate, there were significant differences in the levels of FSH and PRL among PCOS patients carrying different genotypes of Ala307Thr and Ser680Asn polymorphisms.

Conclusion

The Ala307Thr and Ser680Asn polymorphisms of FSHR are not associated with PCOS in Han ethnic Chinese women in north China. The FSHR polymorphisms was related to the levels of FSH and PRL but not other PCOS-associated endocrine hormones as well as clinical pregnancy rate in PCOS patients of Han Chinese ethnical population.  相似文献   

6.
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder with individual susceptibility determined by genetic and environmental risk factors. Recently, studies have evaluated the CAPN10 gene in PCOS patients, suggesting that different alleles may play a role in PCOS susceptibility. We performed a cross-sectional study with 88 southern Brazilian hirsute patients with PCOS or idiopathic hirsutism (IH) to assess the influence of CAPN10 genetic variants on clinical and biochemical features of metabolic syndrome. PCOS patients were defined by oligo/amenorrheic cycles (<9 cycles/year), increased levels of serum testosterone and/or free androgen index, and exclusion of other disorders associated with hyperandrogenism. IH was diagnosed in hirsute patients with regular ovulatory cycles (luteal-phase progesterone levels >3.8 ng/ml), normal androgen levels, and without any known underlying disease (n = 29). Metabolic syndrome was defined according to the 2001 criteria of the National Cholesterol Education Program, Adult Treatment Panel III. UCSNP-43 polymorphism of CAPN10 was related to metabolic syndrome (p = 0.047) in PCOS; UCSNP-19 and UCSNP-63 were not associated with phenotypic traits in PCOS. These results provide evidence that CAPN10 gene UCSNP-43 polymorphisms may influence the PCOS metabolic phenotype. This should be further confirmed in large population-based studies.  相似文献   

7.

Purpose  

This study examined the possible association of G241R and K469E single nucleotide polymorphisms (SNPs) of ICAM-1 gene with the occurrence and clinical/biochemical characteristics of polycystic ovary syndrome (PCOS).  相似文献   

8.
Objective: To investigate whether single nucleotide polymorphisms and its haplotypes of gene encoding CYP1B1 are associated with the risk of advanced endometriosis in Korean women. Methods: We investigated 221 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 188 control group women who were surgically proven to have no endometriosis. The genetic distribution of four different CYP1B1 polymorphisms at Ala119Ser, Leu432Val, Asp449(C>T), Asn453Ser were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism of PCR products. Haplotype analysis was also performed. Results: We found no overall association between each individual CYP1B1 genotype or haplotype and the risk of endometriosis. Also, the odds ratio of each haplotypes of CYP1B1 showed no association with the risk of endometriosis. Conclusions: These results suggest that CYP1B1 genetic polymorphism may not be associated with development of advanced endometriosis in Korean women. CYP1B1 genetic polymorphism may not be associated with development of advanced endometriosis.  相似文献   

9.
Study ObjectiveTo evaluate the differences in adipokines, namely adiponectin, leptin, and ghrelin, in obese adolescent girls with or without polycystic ovary syndrome (PCOS).DesignCase-control study.SettingUniversity hospital.Participants38 adolescent girls (age 15-20 years). Group I: 17 Obese adolescent girls with PCOS (BMI ≥ 30 kg/m2); Group II: Control group of 21 obese adolescent girls (BMI ≥ 30 kg/m2).Main Outcome MeasuresAdiponectin, leptin, and ghrelin measurements.ResultsLH, LH/FSH, and cortisol levels were significantly higher in the obese PCOS girls compared to the obese controls (6.94 ± 3.28 vs 4.44 ± 1.79; 1.50 ± 0.72 vs 0.90 ± 0.36; 16.02 ± 4.28 vs 12.46 ± 5.29; P < .05, respectively). Adiponectin, leptin, and ghrelin levels were similar between the obese PCOS girls and the obese controls (11.13 ± 6.00 vs 15.26 ± 12.66; 23.66 ± 11.54 vs 23.11 ± 11.17; 665.69 ± 402.12 vs 650.22 ± 467.73, respectively). Adiponectin negatively correlated with BMI (r = ?0.32; P = .04) and positively correlated with fasting glucose (r = 0.40; P = .01). Leptin positively correlated with BMI (r = 0.534; P = .001), estradiol (r = 0.354; P = .02), and TSH (r = 0.374; P = .02). No significant correlation was found between ghrelin and the test parameters.ConclusionAmong obese adolescents with PCOS, adiponectin, and leptin levels do not seem to be determined by the existence of PCOS, while ghrelin presents no significant correlation.  相似文献   

10.
Abstract

Objectives: To highlight a possible association of Calpain (CAPN 10) gene UCSNP-43 polymorphism with hormonal and metabolic traits of young women with different phenotypes of polycystic ovary syndrome (PCOS).

Design: PCOS women were genotyped for the CAPN 10 gene UCSNP-43 polymorphism. A comparison of clinical and biochemical features of women with PCOS stratified on the basis of the CAPN 10 gene UCSNP-43 variants was assessed.

Methods: Anthropometric, hormonal and biochemical measurements were carried out in 668 PCOS women and 200 healthy controls. Subjects were also genotyped for the CAPN 10 gene UCSNP-43 polymorphism. The genotype frequency distributions between groups and controls were compared using the chi-square test. The association of the polymorphism with the clinical and biochemical features of the study cohort was estimated as well.

Results: No association of the frequency of CAPN 10 gene UCSNP-43 polymorphism with PCOS was detected. No association of the polymorphism with the anthropometric, biochemical and hormonal features was detected both in PCOS and control women. The polymorphism was associated with serum Δ4 androstenedione (p?=?0.018), as well as with 17-OH progesterone (17-hydroxyprogesterone) among women with PCOS phenotype A (p?=?0.012).

Conclusions: CAPN 10 gene polymorphism UCSNP-43 is deprived of a metabolic contribution to cardiovascular disease (CVD). However, due to its association with androgen excess in phenotype A, CAPN 10 gene polymorphism UCSNP-43 could be used as a genetic marker for CVD in young PCOS women.  相似文献   

11.
ObjectiveTo establish a multilocus model for studying the effect of steroid-related genes on advanced stage endometriosis.Materials and methodsA total of 121 patients with advanced stage endometriosis and 171 control women were included. Eighteen single-nucleotide polymorphisms (SNPs) from nine genes (HSD17B1, HSD17B2, HSD17B5, HSD17B6, CYP17, CYP19, ERα, ERβ, and PGR) were genotyped using the TaqMan assays. Logistic regression models were used to evaluate the genetic effects, with adjustment for other covariates.ResultsOnly the presence of the mutant CYP19 (aromatase gene) was associated with a significantly increased risk of endometriosis after adjusting for age, BMI, and parity (p = 0.002, OR = 2.69; 95% CI = 1.44–5.02). No association was ascertained between the other investigated SNPs and endometriosis.ConclusionPolymorphisms of the aromatase gene confer susceptibility to advanced stage endometriosis in the Taiwanese Han population.  相似文献   

12.
目的 探讨胰岛素受体基因外显子17与多囊卵巢综合征(PCOS)发病的关系。方法对33例PCOS患者(PCOS组)和28例因单纯输卵管原因或男性不育的不孕妇女(对照组)的胰岛素受体基因外显子17进行PCR扩增、单链构型多态性电泳分析,及等位基因分布频率比较。同时对各基因型患者进行内分泌检测。结果 两组胰岛素受体基因外显子17的1008bp处,均有T基因型向C基因型(T→C)的突变,均发现了3种基因型,即T/T、C/T、C/C基因型。PCOS组C/C基因型为39%,对照组为11%,两组比较,差异有统计学意义(P<0 .05 );PCOS组C/C基因型肥胖患者为47%,非肥胖患者为33%,两者比较,差异无统计学意义(P>0 .05)。PCOS组合并胰岛素抵抗患者为50%,无合并胰岛素抵抗患者为36%,两者比较,差异无统计学意义(P>0 .05)。PCOS组患者胰岛素敏感指数,T/T基因型患者为0 .038±0 .016,C/C基因型患者为0 .024±0 .010,C/T基因型患者为0 .028±0 .014,C/T基因型及C/C基因型与T/T基因型患者比较,差异有统计学意义(P<0 .05);T/T基因型与C/C基因型患者比较,差异无统计学意义(P>0 .05)。胰岛素受体β亚基表达及血清黄体生成素、睾酮水平, 3种基因型患者比较,差异均无统计学意义(P>0 .05)。结论 PCOS患者胰岛素受体基因外显子17多态性在1008bp发生T→C的突变频率高于  相似文献   

13.
Polycystic ovarian syndrome (PCOS) is a prevalent endocrine disorder ,which is the most common cause of anovulatory infertility and hirsutism. It is caused by an overproduction of androgens in theca cells. In the ovary ,androgen synthesis is regulated by 17α-hydroxylase/17,20-lyase enzyme complex containing P450c17 (CYP17). In some individuals ,the promoter region of CYP17 gene contains a T→C substitution that creates an Sp1 site at position -34. This polymorphism generates a recognition site for the MspA1 restriction enzyme. The objective of the study was to investigate the frequency of T→C substitution of CYP17 gene promoter in women with PCOS and elucidate its role in the pathogenesis of the syndrome. Another aim of the study was to compare the results with the levels of the hormones luteinizing hormone ,follicle-stimulating hormone ,testosterone and estradiol. The present investigation involved a group of 55 women with PCOS and 56 healthy women without symptoms of PCOS. Following digestion with restriction enzyme MspA1 ,it was demonstrated that the polymorphic A2 allele is no more frequent in women with PCOS than in healthy women. In the PCOS group ,the hormonal profiles were not significantly different in the carriers of a normal allele A1A1 from the carriers of A1A2 and A2A2 alleles. It is concluded that T→C polymorphism of CYP17 gene is not associated with steroid hormone synthesis in PCOS and is not the primary genetic defect in this disease.  相似文献   

14.

Purpose

The objective of this study was to evaluate the association between single-nucleotide polymorphisms (SNPs) rs2197076 and rs2241883 in fatty acid-binding protein 1 (FABP1) gene and polycystic ovary syndrome (PCOS).

Methods

The two alleles rs2197076 and rs2241883 in FABP1 gene in 221 PCOS women and 198 normal women were amplified and sequenced. Allele frequency comparison was performed between the PCOS and control groups, and genotype-phenotype correlation analysis was performed using dominant and recessive models to assess the association of FABP1 and the main features of PCOS.

Results

Allele frequency analyses showed a strong association of SNPs rs2197076 and rs2241883 of FABP1 gene with PCOS (P < 0.001). The additive, dominant, and recessive genotype model analyses further supported this association even after adjusting for age and body mass index (BMI). The minor allele frequency (MAF) of rs2241883 in obese PCOS women was less than that in obese control women. Further genotype-phenotype correlation analysis showed that SNP rs2197076 had a stronger association with the main features of PCOS than SNP rs2241883.

Conclusion

In the association of SNPs in FABP1 gene with PCOS, rs2197076 was more closely associated with its main features than rs2241883 and seemed to play a more important role in the pathogenesis of PCOS.  相似文献   

15.
Study ObjectivesTo estimate (1) the prevalence of insulin resistance (IR), by fasting glucose: insulin ratio (G:I < 7.0) in adolescent girls with polycystic ovary syndrome (PCOS), (2) to compare the clinical and biochemical parameters between insulin-resistant and non-insulin resistant groups.DesignCase series.SettingClinic based.Participants49 adolescent girls with complaints of oligomenorrhoea with hirsutism and or acne.InterventionsForty-nine adolescent girls diagnosed to have PCOS (Rotterdam 2003 criteria) were studied. Body mass index (BMI), abdominal circumference (AC), hirsutism (Ferriman Gallway score  6), presence of acne, acanthosis nigricans (AN) were noted in each case. Serum testosterone, sex hormone binding globulin (SHBG), fasting plasma glucose and insulin levels were measured. Free androgen index (FAI) was calculated.Results69.4% of these girls were found to have IR. There were no differences in age, BMI, AC, serum testosterone, FAI and fasting glucose levels between insulin resistant and non-insulin resistant girls. But there were significant differences in frequencies of hirsutism, acne, AN, and serum levels of SHBG and fasting insulin between the two groups.ConclusionAdolescent girls with PCOS and IR are more hirsute and have more AN and lower SHBG and higher fasting insulin levels compared to non-insulin resistant girls.  相似文献   

16.
ObjectiveTo determine whether adolescents with polycystic ovary syndrome (PCOS) are more depressed than adolescent girls in the community and to examine factors associated with depression.DesignAn observational study comparing clinical and community samples.SettingTwo specialist reproductive endocrine clinics in Auckland, New Zealand.Participants102 girls aged 14-19 presenting for clinical assessment, fulfilling the Rotterdam consensus for PCOS. The comparison group was 1349 girls from a school-based survey of New Zealand youth.InterventionsClinically significant depression was identified by the long and short form Reynolds Adolescent Depression Scale. BMI, androgen levels, oral contraceptive use, objective symptom severity, age, ethnicity, and socioeconomic grouping were recorded.Main Outcome MeasuresClinically significant depression in the PCOS and community samples. Potential determinants of depression.ResultsClinically significant depression in adolescent girls with PCOS was not increased compared with the community sample (OR 1.3; 95%CI 0.7-2.7, P = .42). Within the PCOS cohort, depression was correlated with increased BMI (P = .01) and possibly acne (P = .08).ConclusionsLean adolescent girls with PCOS did not have more clinically significant depression than girls in the community. Within the PCOS cohort, however, there was a clear association between higher depression scores and elevated BMI. There is a potentially important interaction between obesity and depression in PCOS.  相似文献   

17.

Objective

To evaluate the rates of the CYP1A1 Ile/Val polymorphism in Turkish adolescent females.

Methods

The CYP1A1 Ile/Val polymorphism was analyzed by collecting DNA samples from 44 adolescents with polycystic ovary syndrome (PCOS)—according to the Rotterdam criteria—and 120 healthy female controls aged 13-18 years in Ankara, Turkey.

Results

There was a 2.5-fold increase in the frequency of the CYP1A1 Ile/Val genotype in adolescents with PCOS compared with the control group (odds ratio [OR] 2.54; 95% confidence interval [CI], 1.143-5.637; P < 0.001), in addition to a 2.4-fold increase in the frequency of the Val allele (OR 2.43; 95% CI, 1.099-5.397; P < 0.001).

Conclusion

The data show an association between CYP1A1 and PCOS, indicating that variant alleles of the gene may affect the metabolic and transport pathway of estrogens, thus causing PCOS.  相似文献   

18.
Aim.?To investigate the association between V281L CYP21 polymorphism and the hyperandrogenic phenotype of polycystic ovary syndrome (PCOS), in a cohort of 110 Italian women.

Methods.?The CYP21 genotype distribution was evaluated in 50 women with PCOS and 60 control subjects. Genotypes were detected using restriction fragment length polymorphism (RFLP) analysis performed on polymerase chain reaction templates from genomic DNA. Genotypes distribution was compared between groups and we considered a p-value less than 0.05 as statistically significant.

Results.?The frequency of VV, VL and LL was in agreement with other populations. Nevertheless no significant association was observed between CYP21 polymorphism and the presence of PCOS in an Italian cohort of women.

Conclusion.?Although CYP21 gene, involved in steroidogenesis, is a candidate gene for pathogenesis of PCOS, our data suggest that V281L polymorphism is not associated with PCOS in Italian women; a larger study is needed to confirm this result.  相似文献   

19.
胰岛素受体基因多态性与多囊卵巢综合征发病的关系   总被引:18,自引:2,他引:18  
目的探讨胰岛素受体基因酪氨酸激酶区17外显子多态性与多囊卵巢综合征(PCOS)发病的关系.方法用聚合酶链反应-限制性片段多态性技术,检测120例PCOS患者(PCOS组)和40例正常妇女(对照组)的胰岛素受体基因17外显子1058位点多态性,并测定基础状态下卵泡刺激素(FSH)、黄体生成素(LH)、雌二醇、睾酮、泌乳素、血脂以及75 g葡萄糖负荷后患者的糖耐量、胰岛素水平.结果 (1)PCOS组体重指数(BMI)为25±4、腰臀比(WHR)为0.82±0.06、LH为(9.2±6.1)U/L、睾酮为(1.9±0.9) nmol/L、雌二醇为(205±119) pmol/L;对照组BMI为23±3( P <0.01)、WHR为0.79±0.07( P <0.05)、LH为[(4.4±1.6)U/L, P <0.01]、睾酮为[(1.0±0.6) nmol/L, P <0.01]、雌二醇为[(143±75)pmol/L, P <0.01];(2)根据PCOS患者BMI进行分组,肥胖者(51例)空腹血糖、75 g葡萄糖负荷后30、60、120 min的血糖及胰岛素水平均明显高于非肥胖组(69例)患者,除75 g糖负荷后30 min外,两者血糖间比较,差异有显著性( P <0.05或 P <0.01);(3)PCOS患者胰岛素受体基因17外显子多态性出现频率为40.8%,明显高于对照组的12.5%( P <0.01);PCOS非肥胖者胰岛素受体基因多态性出现频率(52.2%)明显高于PCOS肥胖者(25.5%, P < 0.01);(4)根据PCOS患者胰岛素受体基因第17外显子1058位点出现T、C等位基因进行分组,比较两组BMI的变化,结果发现,出现T等位基因者的BMI(23±3)较出现C等位基因者的BMI(26±4)低,差异有极显著性( P <0.01).结论 (1)体重及胰岛素受体基因多态性(C/T)与PCOS发病有关.(2)胰岛素受体基因1058位点多态性,可能是PCOS的易感基因,尤其在PCOS非肥胖者中更有意义.  相似文献   

20.
Study ObjectiveHirsutism has negative impact on adolescent psychosocial development for both cosmetic and endocrine reasons. This study evaluated the effectiveness of a new intermittent, low-dose finasteride regimen consisting of 2.5 mg of drug given every 3 days (1 day of treatment, 2 days of drug withdrawal) for 6 months in girls with hirsutism by polycystic ovarian syndrome (PCOS) or idiopathic hirsutism (IH).Design and ParticipantsTwenty-eight girls (15-19 y old) with hirsutism were randomly assigned to 2 treatment groups and treated for 6 months. Fourteen patients (7 with IH, 7 with PCOS) received finasteride; fourteen patients (7 with IH, 7 with PCOS) received placebo. Hirsutism score (HS), clinical, and hormonal effects were compared between the 2 groups.ResultsIn patients treated with finasteride, the HS value at 6 months was 52.9% lower than that observed at baseline in girls with IH, and 52.8% lower in girls with PCOS (P < .0001 for both). Similarly, the 3α-17 β-androstenediol glucuronide serum levels were decreased by 34.8% in patients with IH, and by 47.5% in patients with PCOS (P < .0001, respectively). Finasteride treatment was well tolerated and did not alter values of BMI, serum levels of sexual hormones, metabolic parameters related to liver and kidney function as well as glycemic and lipidic asset.ConclusionsA low-dose of finasteride, given every 3 days, reduces the HS in young patients affected by PCOS or IH. Compared with conventional continuous finasteride administration, the intermittent low-dose regimen has similar efficacy with the advantage to be safer and less expensive.  相似文献   

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