Association of GSTs gene polymorphisms with treatment outcome of advanced non-small cell lung cancer patients with cisplatin-based chemotherapy

We evaluated the association of GSTM1 null/present, GSTT1 null/present, and GSTP1 IIe105Val polymorphisms with the clinical response to chemotherapy and treatment outcome of NSCLC. Between October 2009 and October 2012, a total of 282 patients with advanced NSCLC were enrolled into our study, and they were followed up until October 2014. The genotypes of GSTM1, GSTT1, and GSTP1 IIe105Val were performed by polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism (RFLP). By logistic regression analysis, our study found that the Val/Val genotype of GSTP1 IIe105Val was associated with more CR+PR response to chemotherapy when compared with the IIe/IIe genotype, and the OR (95% CI) was 2.18 (1.16-4.12). By multivariate Cox proportional hazards regression analysis, we found the Val/Val genotype of GSTP1 was correlated with lower risk of death in advanced NSCLC (HR, 0.48; 95% CI, 0.25-0.93). However, no association was found between GSTT1 and GSTM1 polymorphisms and response to chemotherapy and overall survival of advanced NSCLC. Moreover, the IIe/Val + Val/Val genotypes of GSTP1 were associated with lower risk of death in never smokers, and the adjusted HR (95% CI) was 0.34 (0.12-0.93). In conclusion, we found that the GSTP1 polymorphism was correlated with better response to chemotherapy and lower risk of death in advanced NSCLC patients.     

2型糖尿病女性人群AMPKα2基因多态性与冠心病及脂联素抵抗素的关系

目的 探讨2型糖尿病(T2DM)女性患者AMPKα2基因多态性(rs2796516)与冠状动脉粥样硬化性心脏病(CAD)的相关性,及与脂联素、抵抗素的关系.方法 收集40例CAD合并T2DM女性患者(CAD+DM组)和45例T2DM女性患者(DM组),利用聚合酶链限制性长度多态性分析(PCR-RFLP)及基因测序技术检测AMPKα2基因多态性.并通过酶联免疫法(ELISA)测定血清脂联素、抵抗素浓度.结果 两组间AMPKα2基因型分布差异有统计学意义(χ2=6.50,P=0.04),GG基因型为CAD+DM发病的保护因素(OR为0.33,95% C.I.为0.13~0.81;χ2=5.95;P=0.02),AMPKα2基因多态性与脂联素、抵抗素及低密度脂蛋白水平明显相关.结论 T2DM女性患者AMPKα2基因多态性(rs2796516)与CAD及脂联素、抵抗素水平具有相关性.     

加系SPF大白猪和长白猪群体遗传学分析

【摘要】目的 研究中国农业科学院哈尔滨兽医研究所从加拿大引进的SPF大白猪和长白猪的遗传学背景。方法 试验采用19对微卫星引物对该群体进行群体遗传学分析。结果 19个位点在大白猪群中检测到84个等位基因,长白猪群中检测到89个等位基因。大白猪的平均多态信息含量和平均杂合度分别为0.5271和0.5877;长白猪的平均多态信息含量和平均杂合度分别为0.5652和0.6066。由于S0155,S0143,S0178,Sw857和Sw936位点内等位基因大小和含量差异显著（P>0.01）可作为大白猪和长白猪品种鉴定的候选位点。F-统计和迁移率分析结果表明,群体内的分化较小,遗传结构稳定。结论 此次引进加系SPF纯种大白猪和长白猪的遗传结构与国内部分纯种大白猪和长白猪相比更为稳定,可作为实验动物模型应用于动物医学和科学研究。     

口腔脱落细胞检测无精子因子微缺失的临床应用

目的 探讨同一个体口腔脱落细胞和血液检测无精子因子（AZF）缺失的相关性,研究口腔脱落细胞检测AZF 的可行 性。方法 选择287例研究对象,其中严重少弱精症120 例,无精症80例,正常男性87例。同一受试对象的血液和口腔脱落细胞样本统一编号。应用多重PCR 技术,分别检测口腔脱落细胞、血液基因组中AZF区域的Y 染色体微缺失情况。结果 血液和口腔脱落细胞检出AZF缺失的样本编号一一对应,并且缺失类型一致。在200 例患者中,29 例检出基因组AZF 基因微缺失,余171 例患者和87例正常对照者未检出AZF 基因微缺失。结论 在进行Y染色体微缺失筛查中,口腔脱落细胞检测AZF 简便、无创,可以替代血液AZF检测。     

细胞块技术在恶性浆膜腔积液组织来源及分子病理检测中的应用

目的 探讨细胞块免疫组化技术在恶性浆膜腔积液组织来源及分子病理检测中的应用价值。 方法 抽取 42 例患者 的恶性浆膜腔积液,分层离心获取肿瘤细胞并制作成细胞蜡块,应用 HE 染色、免疫组化染色、基因测序等方法对其进行检测。 结果42 例患者中,利用恶性浆膜腔积液细胞块明确组织分型及组织来源 40 例,其中肺癌 29 例（腺癌 24 例、鳞癌 3 例、小细胞癌 2 例）,恶 性淋巴瘤 2 例,胃肠道癌 4 例,乳腺癌 4 例,卵巢癌 1 例。29 例肺癌样本中 24 例进行了肺腺癌基因检测,其中 9 例表皮生长因子受体 基因突变,包括 E19（del E746-A750）缺失突变 6 例和 E21（L858R）替代突变 3 例。 结论 细胞块技术对于恶性浆膜腔积液的诊断 有重要临床意义,有助于明确诊断并查找组织来源,同时能够进行组织分型及分子病理检测,有效指导肿瘤的分子靶向治疗。     

PLA2R基因多态性与成人特发性膜性肾病治疗效果及预后的关系

目的 探讨磷脂酶A2受体(PLA2R)SNP rs35771982位点基因多态性与成人特发性膜性肾病(IMN)治疗效果及预后的关系。方法 选取2017年1月至2018年12月新疆维吾尔自治区人民医院肾内科确诊的60例IMN患者为IMN组,选取同期60例健康体检者作为对照组,比较两组研究对象PLA2R基因单核苷酸多态性(SNP)rs35771982位点的基因型,比较不同基因型IMN患者完全/部分缓解率、复发率、不良反应发生情况,采用二元logistic回归分析PLA2R基因不同基因型与成人IMN患者预后的关系。结果 IMN组患者PLA2R基因SNP rs35771982位点存在GG、GC、CC 3个基因型,GG基因型、G等位基因比例显著低于对照组,CC基因型、C等位基因比例显著高于对照组(P<0.05);CC基因型患者的完全/部分缓解率显著低于GC、GG基因型患者(P<0.05);CC基因型患者的复发率显著高于GC、GG基因型患者(P<0.05);CC基因型患者的血糖异常率显著高于GG基因型患者(P<0.05);CC基因型患者的尿酸异常率显著高于GG、GC基因型患者(P<0.05);logistic回归分析显示,CC基因型是影响IMN患者不良预后的危险因素(OR=6.634, P<0.05)。结论 新疆维吾尔族自治区人群PLA2R基因SNP rs35771982位点的基因多态性可能与成人IMN患者治疗效果、预后相关,且rs35771982位点CC基因型可能是影响IMN患者不良预后的危险因素。     

Association of Plasminogen Activator Inhibitor-1 Gene Polymorphism with Inflammatory Bowel Disease in Iranian Azeri Turkish Patients

Background/Aim:

Previous studies have shown the association of some genetic factors, such as Plasminogen activator inhibitor type-1 (PAI-1) 4G/5G polymorphism, with the development of inflammatory bowel disease (IBD). We aimed to study this polymorphism as a risk factor in IBD patients in this cohort.

Patients and Methods:

One hundred and fifteen IBD patients and 95 healthy controls were selected from Iranian Azeri Turks and -6754G/5G polymorphism of PAI-1 gene was tested by polymerase chain reaction using allele-specific primers confirmed by sequencing.

Results:

There was no significant difference of PAI-1 polymorphism between IBD patients and the control group (P > 0.05). Furthermore, these data showed no significant difference between Crohn''s disease and ulcerative colitis patients. However, 4G/4G homozygotes have reduced probability to progression of loss of appetite, whereas 5G/5G genotypes have increased risk for development of chronic diarrhea without blood, nausea, and loss of appetite.

Conclusions:

Although our study showed no significant association of PAI-1 polymorphism between patients and control group, the carriers of 4G/4G genotype and 4G allele had reduced risk for the progression of IBD features in this cohort.