Polymorphisms of estrogen-metabolizing genes and breast cancer risk: a multigenic study

Background Endogenous estrogen plays a very important role in the carcinogenesis and progression of breast cancer. The enzymes involved in the biosynthesis and metabolism of estrogen have been proposed to contribute to this effect. To examine this hypothesis, we conducted a case-control study to investigate the relationship between polymorphisms of genes responsible for estrogen biosynthesis (CYP17, cytochrome P450c17a and CYP19, aromatase cytochrome P450) and estrogen sulfation of inactivation (SULT1A1, sulfotransferase1A1) and the risk of breast cancer in Chinese women. Methods This study involved 213 breast cancer patients and 430 matched controls. PCR-based restriction fragment length polymorphism (RFLP) and short tandem repeat polymorphism (STRP) assays were used to detect the mononucleotide transition of CYP17 and SULT1A1 and tandem repeat polymorphism of CYP19. Logistic regression analyses were used to determine OR and 95% CI of each and all three high-risk genotypes, of all three genotypes combined, and of estrogen exposure factors. The relationship between each high-risk genotype and clinicalpathological characteristics were also assessed. Results The frequency of A2 allele of CYP17 was 49.8% in cases and 49.1% in controls (P=0.82). The frequency of His allele of SULT1A1 was significantly higher in cases (13.6%) than in controls (9.5%) (P<0.05). There was also significant difference of the (TTTA)10 allele of CYP19 which was 12.4% in cases and 8.2% in controls (P<0.05). When the CYP17 A2 allele, CYP19 (TTTA)10 and SULT1A1 His allele were considered as the “putative high-risk” genotype, there was an increased risk of breast cancer with the number of high-risk genotypes in a dose-response effect (trend, P=0.05). In multivariate analysis, the SULT1A1 genotype remained the most significant determinant for breast cancer, with OR=2.37 (95% CI 1.23–4.74), followed by CYP19, with OR=1.75 (95% CI 1.27–3.56). The (TTTA)10 allele of CYP19 was associated with tumor size, and the His allele of SULT1A1 associated with status of lymph node metastasis. Conclusions This study supports the hypothesis that breast cancer can be initiated by estrogen exposure and that estrogen metabolizing genes are involved in this mechanism. This multigenic model is useful for identifying individuals who are at higher risks of breast cancer.     

Breast MRI in patients with occult breast carcinoma: evaluation on feasibility and correlation with histopathologic findings

Background As an uncommon presentation, occult primary breast cancer remains a diagnostic and therapeutic challenge in clinical practice. Our study was to retrospectively assess the feasibility of breast MRI in patients with malignant axillary lymphadenopathy and unknown primary malignancy, and correlated with histopathologic charateristics. Methods A total of 35 women with occult breast carcinoma were evaluated with dynamic contrast-enhanced breast MRI. Whole seriate section was used in all cases. MRI performance was assessed and correlated with histopathologic findings. Results Twenty-one of 35 patients were found to have primary breast carcinoma histologically. 20 of the 21 patients had abnormal MR findings and 1 patient had a normal MRI study. Of the remaining 14 patients, 10 were both negative on MRI and surgery. 4 had suspicious enhancement on MRI and no corresponding tumor was found. Lesions with mass enhancement were found in 55% (11/ 20) and ductual and segmental enhancement in 45%. The average diameter of the primary tumors was 15mm. Invasive ductal carcinomas were found in 81% (17/21). One of 17 invasive ductual carcinomas was too small to be graded. 14 of the remaining 16 were classified as grade II and 2 as grade I. 32 of the 35 patients had received ER、PR and Her 2 examinations and the 12 of 32 were triple-negative breast carcinoma. Conclusions Mass lesions with small size and lesions with ductal or segment enhancement are common MR features in patients with occult breast cancer. The dominant types of primary tumors are invasive ductal carcinoma with moderate histopathological grade. The rate of triple-negative breast carcinoma may be higher in occult breast cancer.     

DIAGNOSTIC AND PROGNOSTIC UTILITY OF SERUM PSA IN BREAST CANCER

Objective To investigate the diagnostic and prognostic value of total and free prostate-specificantigen ( PSA ) in breast cancer women. Methods Using the microparticle enzyme immunoassay system, we measured the concentrations of these markers in the sera of 85 women with breast cancer and in 30 healthy women. Results Free PSA levels were significantly higher in women with breast cancer than healthy women(P <0. 05). The percentage of free PSA predominant subjects was 37. 6% in breast cancer patients and 3. 3% in healthy women. In women with breast cancer,total PSA positivity was 23. 5% and free PSA positivity was 27. 1%. When compared to negatives,total PSA positive patients had a higher percentage of lymph node involvement tumours (P >0. 05). However, patients with predominant free PSA had a higher percentage of early stage than patients with predominant PSA-ACT. Conclusion This study indicate clinical significance of preoperative measurement of serum total and free PSA in diagnosis and prognosis of wom     

Breast magnetic resonance imaging in patients with occult breast carcinoma: evaluation on feasibility and correlation with histopathological findings

Background  As an uncommon presentation, occult primary breast cancer remains a diagnostic and therapeutic challenge in clinical practice. This study aimed to retrospectively assess the feasibility of breast magnetic resonance imaging (MRI) in patients with malignant axillary lymphadenopathy and unknown primary malignancy, and correlation with histopathological characteristics.

Methods  A total of 35 women with occult breast carcinoma were evaluated with dynamic contrast-enhanced breast MRI. Whole seriate section was used in all cases. MRI performance was assessed and correlated with histopathological findings.

Results  Twenty-one of 35 patients were found to have primary breast carcinoma histologically. Twenty of the 21 patients had abnormal MR findings and 1 patient had a normal MRI study. Of the remaining 14 patients, 10 were negative on both MRI and surgery. Four had suspicious enhancement on MRI and no corresponding tumor was found. Lesions with mass enhancement were found in 55% (11/20) and ductual and segmental enhancement in 45%. The average diameter of the primary tumors was 15 mm. Invasive ductal carcinomas were found in 81% (17/21). One of 17 invasive ductual carcinomas was too small to be graded. Fourteen of the remaining 16 were classified as grade II and 2 as grade I. Thirty-two of the 35 patients had received estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 examinations and the 12 of 32 were triple-negative breast carcinoma.

Conclusions  Mass lesions with small size and lesions with ductal or segment enhancement are common MRI features in patients with occult breast cancer. The dominant types of primary tumors are invasive ductal carcinoma with moderate histopathological grade. The rate of triple-negative breast carcinoma may be higher in occult breast cancer.

     

Analysis of clinicopathological factors associated with bone metastasis in breast cancer

Breast cancer is the second leading cause of cancer death in women today. Once breast cancer metastasizes to bone, mortality increases. Thus, there is an urgent need to identify patients with high risk of bone metastasis, and to find predictive factors for the occurrence of bone metastasis at an earlier stage of breast cancer. Three hundred and sixty patients with pathologically proved breast cancer visiting the Department of Nuclear Medicine for whole body bone scan from January 2006 and January 2009 were investigated in this study. Clinicopathological information was obtained, which consisted of age, menopausal status, clinical staging, lymph node stage, histological grade, the expression of estrogen receptor (ER), progesterone receptor (PR) and epidermal growth factor receptor 2 (HER2). Correlation between bone metastasis and the associated factors was tested by using the Chi-square test. A Cox multivariate analysis was used to assess the factors which independently contributed to survival after bone metastasis in breast cancer patients. Survival curves were drawn for metastasis-free interval and the independent factors which contributed to survival, using the Kaplan-Meier method. Twenty-four patients were excluded from subsequent analysis. Three hundred and thirty-six enrolled patients ranged in age from 22 to 77 years (mean, 47.8 years). ER/PR status [ER(+) vs. ER(-), χ2 =4.328, P=0.037; ER(+)PR(+) vs. ER(+)PR(-), χ2 =4.425, P=0.035] and histological grade (χ2 =7.131, P=0.028) were significantly associated with bone metastasis. ER status (χ2 =8.315, P=0.004) and metastasis-free interval (χ2=6.863, P=0.009) were independent prognostic factors for survival in breast cancer patients with bone metastasis. Our study suggested that ER/PR status and histological grade are risk factors for the development of bone metastasis in breast cancer patients. However, ER status and metastasis-free inter- val are independent prognostic factors for survival in breast cancer patients with bone metastasis. Breast cancer bone metastasis has its unique characteristics, which is helpful to choose the appropriate treat- ment for breast cancer patients with bone metastasis.     

Prognostic significance of MDR-1 P-glycoprotein expression in breast cancer

Objective: To investigate the expression of MDR-1 P-glycoprotein(MDR-1 Pgp) in breast cancer and analyze its correlation to the biological behavior and prognosis of the disease. Methods:The expression of MDR-1 Pgp was examined in 75 cases of breast cancer patients by using three different monoclonal antibodies(JSB1, C219 and C494) with S-P immunohistochemisty. These patients were followed up for 5 years, and the correlation between MDR-1 Pgp expression, survival rate and lymph metastasis was analyzed. Results: Positive detection of MDR-1 Pgp by JSB1, C219 and C494 in 75 cases of breast cancer was 86.7%, 48% and 85.3%, respectively. MDR-1 Pgp expression was not related to ages of patients (P > 0.05). JSB1-detected expression of MDR-1 Pgp was related to lymph node metastasis(P < 0.05); while C219 and C494 were not(P > 0.05). The patients with MDR-1 Pgp expression positively detected by either two of the three antibodies, had five-year survival rate that was significantly higher than those positively detected by all the three antibodies(P < 0.05). Conclusion:Three antibodies should be used simultaneously to detect MDR-1 Pgp expression in breast cancer. Positive MDR-1 Pgp expression in breast cancer detected by all the three antibodies may represent a poor prognosis; while positive MDR-1 Pgp detection by JSB1 and C494 is associated with lymph metastasis.     

Polymorphism of Glutathione S—transferaseT1,M1and P1Genes in a Shanghai Population：Patients With Occupational of Non—occupational Bladder Cancer

Objective Glutathione S-transferases are involved in the conjugation of xenobiotics. To explore whether GSTs polymorphisms are involved in the development of occupational or non-occupational bladder cancer, polymorphism frequencies of GSTT1, M1 and P1 were investigated in a normal population, which had been settled in a rural area in Shanghai suburb for at least 5 generations as well as in a group of patients with benzidine exposure related occupational bladder cancer in Shanghai dyestuff industry and a group of patients with non-occupational bladder cancer. Methods PCR based procedures were performed in the study populations to confirm the genotypes of GSTT1, M1 and P1. Results The polymorphisms at locus of GSTP1- A1578G in the normal population differed significantly from those in Caucasians or African Americans. All the subjects genotyped so far (n =118) bore only homogenous wild genotype (C2293/ C2293) at GSTP1 - C2293T locus. This locus seemed to be a monomorphic in Shanghai population. No significant difference in GSTT1 and GSTM1 polymorphic form frequencies could be confirmed among three groups of subjects. An overrepresentation of GSTP1 AG or GG genotype corresponding a less stable and less effective isozyme protein was detected in patients with benzidine related occupational bladder cancer, compared with that in the normal population though a statistical significance was not yet reached (P=0.09, OR=1.96, 95% CI 0.89-4.32,). Conclusion This study suggests that GSTM1 or GSTT1 homozygous deficiency genotypes and their combination do not have a clear impact on bladder cancer incidence in a Shanghai population. It seems that GSTP1 polymorphism is not associated with non-occupational bladder cancer. GSTP1 AG or GG genotype has a higher frequency in the patients with benzidine related occupational bladder cancer, and further work is needed to confirm if GSTP1 AG or GG genotype plays a role in the development of occupational bladder cancer.     

中国年轻乳腺癌的临床病理特征及预后分析

目的 分析中国年轻乳腺癌的临床病理特征,并探讨年轻乳腺癌患者的预后.方法 回顾分析北京肿瘤医院乳腺中心1994年12月至2003年12月收治的1538例Ⅰ～Ⅲ期可手术原发性乳腺癌患者的临床资料,其中年龄≤60岁且有完整随访资料者1075例.按年龄将1075例患者分为年轻组(≤40岁,208例)和对照组(41～60岁,867例),分析两组患者的预后及临床病理特征之间的差异.结果 与对照组相比,年轻组更倾向于淋巴结转移(P=0.016)、雌激素受体表达阴性(P=0.016)以及人表皮生长因子受体2表达阳性(P=0.001).年轻组和对照组5年无病生存率(DFS)分别为73.3%和84.1%(P<0.001),5年总生存率(OS)分别为83.5%和89.1%(P=0.004).进一步分层分析显示,在Ⅰ～Ⅱ期患者中年轻组预后不良,而在Ⅲ期患者中年轻组预后与对照组差异无统计学意义.在Ⅰ～Ⅱ期患者中,年龄≤40岁是影响DFS(HR=1.78,95%CI:1.19～2.66;P=0.005)和OS(HR=1.71,95%CI:1.01～2.90;P=0.046)的独立不良预后因素.结论 中国年轻乳腺癌患者预后不良,这种不良预后在临床Ⅰ～Ⅱ期乳腺癌患者中更为明显.

Abstract：

Objective To analyze the clinicopathologic characteristics and evaluate the prognosis in young Chinese women with breast cancer. Methods A total of 1538 female patients with operable primary breast cancer (stage Ⅰ - Ⅲ) treated at our hospital from December 1994 to December 2003 were analyzed retrospectively. Among them, 1075 patients (≤60 yrs) with the complete follow-up data were divided into two groups according to age: young breast cancer group ( ≤40 yrs, n = 208) and control group (41-60 yrs, n = 867) to analyze the differences in their clinicopathologic characteristics and evaluate the prognosis of both groups. Results The patients with young breast cancer were more likely to have positive lymph nodes (P=0.016) , a negative expression of ER (estrogen receptor) (P = 0.016) and a positive expression of HER2 (P = 0. 001). The 5-year disease-free survival (DFS) rates of young breast cancer group and control group were 73. 3% and 84. 1% (P <0. 001) and the 5-year overall survival (OS) rates 83. 5% and 89. 1% (P = 0.004) respectively. Moreover, the patients with young breast cancer had a worse DFS than control group in patients with stage Ⅰ - Ⅱ disease but not in those with stage Ⅲ disease. And ≤40 years was an independent unfavorable prognostic factor of DFS (HR = 1. 78, 95% CI: 1. 19 - 2. 66, P = 0. 005) and OS (HR = 1. 71, 95%CI: 1.01 -2.90, P = 0.046) in the patients with stage Ⅰ - Ⅱ disease. Conclusion Chinese women with young breast cancer have a worse prognosis, particularly in those with stage Ⅰ - Ⅱ disease.     

Detection of antigen-specific immune complexes in sera of gastric and esophageal cancer patients.

Using the murine monoclonal antibodies against human gastric cancer cell antigens designated MG7 and MGd1, we developed a sandwich ELISA to detect the levels of antigen-specific immune complexes (IC) in human sera. By this assay, only 6.7%(6/90) of healthy blood donors and 9.2％(6/65) of patients with chronic gastritis had antigen-specific IC in sera exceeding the cut-off value. Whereas 21.4%(6/28) of patients with colorectal cancer, 18.2%(4/22) of patients with bepatocellular cancer, 11.4％(4/35) of patients with lung cancer and 9.5%(2/21) of patients with breast cancer had elevated levels of the antigen-specific IC. In contrast,58.7%(54/92) of patients with gastric cancer and 53.3%(24/45) of patients with esophageal cancer were positive for this antigen-specific IC. Determination of levels of antigen-specific IC in sera may be useful in serologic diagnosis of patients with gastric and esophageal cancer.     

多巴胺转运体基因多态性与异常体液型乳腺癌的相关性

目的 探讨多巴胺转运体基因(DATl)3'端40 bp VNTR多态性与新疆维吾尔自治区汉族人群异常体液型乳腺癌的相关性.方法 按维吾尔医学将乳腺癌患者分为4种体液型,采用聚合酶链式反应(PCR)和VNTR多态性分析技术对新疆汉族144例乳腺癌患者和104名正常对照组DAT1多态性进行检测,比较各组间等位基因和基因型频率分布的差异.结果 所测人群中,DAT1VNTR多态性表现出7、9-11倍重复的4种等位基因,其中最常见的等位基因为10倍重复的480 bp片段,其基因频率为90.9%;共检出7种基因型,其中最常见的基因型为10/10倍重复,占83.1%.异常黏液质型乳腺癌患者的DAT1 VNTR 10倍重复等位基因和10/10倍重复基因型频率显著高于正常对照组(OR=0.127,95%CI为0.016～0.988,P=0.026;OR=0.134,95%CI为0.018-1.016,P=0.020)和异常胆液质型乳腺癌患者组(OR=0.132,95%CI为0.016～1.075,P=0.049;OR=0.132,95%CI为0.017-1.042,P=0.033).结论 多巴胺转运体基冈(DAT1)3'端40 bp VNTR10倍重复等位基因和10/10倍重复基因型可能增加新疆汉族维吾尔医异常黏液质型乳腺癌的发病风险,可能与异常胆液质型乳腺癌易感件无关.     

乳腺癌患者[WT3HX][ST3HX]CYP1A1[WT3HZ][ST3HZ]基因MspⅠ酶切位点多态性的分析

目的：探讨细胞色素[CYP1A1基因MspⅠ酶切位点多态性与乳腺癌遗传易感性的关系。方法:应用聚合酶链式反应- 限制性片段长度多态性(PCR-RFLP)分析技术,检测160例乳腺癌患者(病例组)和124例同期住院非乳腺癌患者(对照组), CYP1A1基因MspⅠ酶切位点多态性的3种基因型及等位基因的频数分布。结果：在病例组CYP1A1基因MspⅠ酶切位点基因型频数分布为：TT（45.0％）、TC（46.3％）、CC（8.8％）,等位基因频数分布为T（68.1％）、C（31.9％）;在对照组CYP1A1[基因MspⅠ酶切位点基因型的频数分布为TT（61.3％）、TC（35.5％）、CC（3.2％）,等位基因频数分布为T（79.0％）、C（21.0％）。各个基因型在两组中所占的比例差异无显著性（P>0.05）;两组T、C等位基因频数比较差异有显著性(P<0.05)。 结论： CYP1A1基因MspⅠ酶切位点多态性可能与本地区乳腺癌易感性有关。     

肺癌中医证候与代谢酶基因CYP1A1、CYP2E1多态性的关联研究

目的:探讨代谢酶基因多态性与肺癌中医证型的关联,寻找肺癌中医证型的易感基因,分析基因辅助辨证的可行性。方法:分析207例肺癌患者的中医证型,运用聚合酶链反应-连接酶检测(polymerase chain reaction-ligase detection reaction,PCR-LDR)技术检测207例肺癌患者CYP1A1基因MspⅠ、Ⅱe/val位点和CYP2E1基因RsaI位点的基因型,分析其基因型和等位基因频率分布与肺癌中医证候之间的关系。结果:CYP1A1基因MspⅠ位点3种基因型在不同中医证型中的分布具有统计学差异(P0.01);精气两亏证CC基因型和C等位基因出现的频率明显高于脾虚痰湿证和痰热内蕴证(P0.0083);痰热内蕴证以CT基因型为主(50.0%),阴虚内热证以CC基因型为主(76.2%),两组具有显著差异(P0.0083)。CYP1A1基因Ⅱe/val位点和CYP2E1基因RsaI位点基因型及等位基因频率在4组证型中的分布,差异均无统计学意义(P0.05)。结论:CYP1A1基因MspⅠ位点可能与肺癌中医证型具有关联,CC基因型和C等位基因可能与精气两亏证的形成相关联。     

细胞色素P450 1A1基因多态性与宫颈癌的相关性

 目的 探讨细胞色素P450 1A1(cytochrome P4501A1,CYP 1A1)基因MspⅠ酶切位点多态性及Ile/Val多态性与宫颈癌遗传易感性的关系。方法 采用聚合酶链式反应限制性片段长度多态性分析(PCR restriction fragment length plogymorphism,PCR RFLP)和等位基因特异性PCR(allele specific PCR,as PCR)检测宫颈癌患者(病例组,n=176)和同期体检女性健康人群(对照组,n=112)CYP 1A1基因MspⅠ酶切位点多态性和Ile/Val多态性。结果 比较病例组和对照组CYP 1A1基因MspⅠ酶切位点基因型及等位基因T和C频率分布,差异无统计学意义(P=0.09);比较两组间CYP 1A1 Ile/Val多态性发现,病例组3种基因型Ile/Ile、Ile/Val、Val/Val频率分布分别为19.3%、68.8%、11.9%,等位基因Ile、Val频率分布分别为53.7%、46.3%,与对照组比较差异有统计学意义(P=0.04)。结论 细胞色素CYP 1A1基因MspⅠ位点多态性与宫颈癌发病易感性无关联性,CYP 1A1基因Ile/Val多态性与宫颈癌发病易感性有关联性。     

CYP1A1基因多态性与子宫内膜癌的相关性研究

目的 探讨温州地区人群中细胞色素P450酶（cytochrome P4501A1,CYP1A1）基因MSP I多态性与子宫内膜癌（en-dometrial cancer）遗传易感性的关系.方法 应用聚合酶链式反应-限制性片段长度多态性分析技术（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）对53例子宫内膜癌患者和96例对照组人员进行了CYP1A1基因MSP I多态性的检测,分析该基因多态性与子宫内膜癌患病风险的关系.结果 子宫内膜癌组CYP1A1基因MSP I多态性位点基因型频率及等位基因频率分别为：TT（5417%）、CC（5.7%）、TC（39.6%）;T（74.5%）、C（25.5%）.对照组分别为TT（32.3%）、CC（12.5%）、TC（55.2%）;T（59.9%）、C（40.1%）.内膜癌组和对照组的基因型差异有统计学意义（P＜0.05）,子宫内膜癌组等位基因C的频率低于对照组.结论 CYP1A1基因MSP I位点多态性的存在可能与子宫内膜癌易感性有关.     

维医异常胆液质证的相关指标特点研究

目的：探讨异常胆液质证区别于非异常体液质证的医学指标特点,为今后建立量化的体液质分型标准提供依据。方法对新疆和田地区策勒县维吾尔族志愿者进行维医辩证分型,收集645例异常体液质证人群（异常胆液质证组138例,非异常胆液质证组507例）的全血及血清样本,采用全自动血细胞分析仪和全自动生化分析仪检测23项血常规指标和17项生化指标,比较两组各项指标的差异,筛选差异指标进行异常胆液质证与非异常胆液质证相关危险因素的非条件 Logistic 回归分析。结果与非异常胆液质证组相比,异常胆液质证组血常规、生化各指标中白细胞计数（WBC）、中性粒细胞计数（NEU）、淋巴细胞数目（LEM）、血红蛋白（HGB）、红细胞压积（HCT）、平均红细胞体积（MCV）、总胆固醇（CHO）、甘油三酯（TG）、低密度脂蛋白胆固醇酯（LDL-C）水平偏低,高密度脂蛋白胆固醇酯（HDL-C）水平偏高,差异均有统计学意义（P均＜0．05）,经多变量 Logistic回归分析,建立回归方程,入选指标有 HDL-C、LDL-C、LEM和 HCT。结论 HDL-C、LDL-C、LEM、HCT 4项指标可成为判断异常胆液质证与非异常胆液质证的指标。     

白介素-1β基因多态性与新疆维吾尔族人群抑郁障碍的相关性研究

目的 探讨白介素-1β（IL-1β）基因-511C/T和-31T/C多态性与新疆维吾尔族人群抑郁障碍的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法对目的片段进行扩增,用限制性内切酶酶切消化反应方法对目的片段进行基因分型.研究选取100例维族抑郁障碍患者和120名维族健康受试者,对IL-1β基因启动子区-511C/T和-31T/C位点进行多态性分析.结果 IL-1β基因启动子区-511 C/T在病例组和健康对照组中基因型频率分别为：CC型19％和19.2％,CT型58％和55％,TT型23％和25.8％.-511C/T抑郁障碍组与对照组基因频率相似,差异无统计学意义（x2=0.266,P=0.875）.-31T/C在病例组和健康对照组中基因型频率分别为：CC型24％和24.2％,CT型58％和58.3％,TT型18％和17.5％.-31T/C抑郁障碍与对照组基因频率相似,差异无统计学意义（x2=0.0093,P=0.995）.结论 IL-1β基因启动子区-511C/T和-31T/C基因多态性和新疆维吾尔族抑郁障碍的发生无明显相关性.     

代谢酶CYP1A1、CYP2D6基因多态性与肺癌易感性的病例对照研究

目的 探讨代谢酶CYP1A1基因MspⅠ位点多态性、CYP2D6*10等位基因C188T位点多态性与人群肺癌遗传易感性之间的相关性.方法 应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测86例广州市肺癌患者和86例对照的CYP1A1、CYP2D6基因多态性分布频率,分析基因多态性与肺癌遗传易感性之间...     

雌激素代谢酶CYP17、COMT基因多态性与妊娠期肝内胆汁淤积症易感性的关系

目的探讨参与雌激素合成和代谢的CYP17和COMT基因多态性与成都地区妊娠期肝内胆汁淤积症（ICP）发病的关系。方法应用聚合酶链反应．限制性片段长度多态性（PCR—RFLP）技术,对100例ICP患者和100名正常对照孕妇CYPl7基因启动予区（T．C）多态和COMT基因外显子4密码子158（G—A）多态性进行分析。结果①两组均存在CYP17基因T．c多态,但两组基因型TF、TC、CC频率和等位基因T、c频率的比较差异均无统计学意义（P〉0．05）;②两组均存在COMT基因G．A多态,但两组基因型GG、GA、AA频率和等位基因G、A频率的比较差异均无统计学意义（P〉0．05）。结论CYP17和COMT基因单核苷酸多态性与成都地区ICP发病风险无相关性。     

CYP1A1rs4646903单核苷酸多态性与宁夏地区男性不育相关性研究

目的分析CYP1A1(rs4646903,T/C)单核苷酸多态性与宁夏地区男性不育的相关性。方法采用病例-对照研究方法,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分别对204例男性不育患者和202例正常男性对照的CYP1A1 rs4646903单核苷酸多态性进行测定,分析基因型及等位基因频率在患者组和对照组的分布特点。结果相对于纯合野生基因型TT,未见CYP1A1 rs4646903杂合突变型TC(OR=1.07,95%CI=0.70～1.65)和纯合突变型CC(OR=1.41,95%CI=0.79～2.50)与男性不育有关联(P>0.05)。此外,相对于野生基因T,也未见突变基因C与男性不育有关联(OR=1.17,95%CI=0.88～1.55)。结论 CYP1A1 rs4646903单核苷酸多态性与宁夏地区男性不育无相关性。