广东地区汉族人群的hGSTP1Ile105Val基因多态性的研究

目的 :对广东地区汉族人群的hGSTP1Ile10 5Val基因多态性进行研究。方法 :应用PCR -RFLP(基因体外扩增限制性片段长度多态性分析 )的技术方法进行研究。结果 :该人群中GSTP1基因在 10 5位点的野生型纯合子 (AA)基因型的分布频率为 5 7.4 % ,突变型纯合子 (GG)基因型为 6 .7% ,杂合子 (AG)基因型为 35 .9%。结论 :GSTP1纯合突变基因型在广东地区汉族人群中的分布频率为 6 .7%。

GSTP1 (Ile105Val) Gene Polymorphism: Risk and Treatment Response in Chronic Myeloid Leukemia

Background: Genetic variation influencing individual susceptibility to chemical carcinogens is one of the main factors leading to cancer development. The glutathione S-transferases (GSTs) are a family of enzymes belonging to phase II enzymes involved in detoxification of xenobiotics. A significant relationship is observed between the risk of developing cancer and genetic polymorphisms within GSTs. Methods: In this study, we investigated the influence of inherited GSTP1 (Ile105Val) gene polymorphism on the susceptibility to CML in Egypt in 40 CML patients (20 children and 20 adults), together with 40 healthy controls using a [PCR-RFLP] assay. Results: We found that the mutant type (IIe/Val, Val/Val) was significantly higher in CML patients (67.5%) compared to controls (35%) (p = 0.004);[odds ratio 3.9;95% CI: 1.5 - 9.7]. The mutant type was associated with more advanced phases in disease and with both worse hematological and cytogenetic responses when compared to the wild type (p = 0.03, p = 0.05, and p 0.001, respectively). Conclusion: GSTP1 (Ile105Val) gene polymorphism conferred a significant association with increased risk of CML and is associated with worse prognosis. Further studies on the functional consequences of this genetic polymorphism would pave the way to declare its role in the pathogenesis of CML or as a possible predictor for response to therapy.

人工修饰双等位基因特异性引物结合SYBR Green Ⅰ荧光PCR法检测GSTP1基因多态性

目的建立人工修饰双等位基因特异性引物结合SYBR Green Ⅰ荧光PCR法检测GSTP1第105个密码子基因多态性的方法,并利用该法研究GSTP1第105个密码子在广西百色市人群遗传特征,为进一步研究GSTP1基因多态性与疾病的发生易感性研究奠定基础。方法采用人工修饰双等位基因特异性引物结合SYBR Green Ⅰ荧光PCR法技术对211例广西百色市健康成人进行GSTP1 Ile105Val基因分型,并分析是否存在性别差异及与国内外其他人群分布频率差异。结果人工修饰双等位基因特异性引物结合SYBR Green Ⅰ荧光PCR法GSTP1基因型检测结果与PCR产物测序结果一致,用此法检测出广西百色市女性和男性人群GSTP1 Ile105Val均以A等位基因为主,分别为79.7%和84.5%;AA野生纯合子型、AG杂合子型和GG突变纯合型在女性人群中分别为62.2%、35.1%和2.7%,男性人群则为71.0%、27.0%和2.0%。经统计学分析,广西GSTP1Ile105Val等位基因和基因型分布频率无性别差异,与辽宁、回族、印度、俄罗斯族等人群相应位点基因型分布频率无差异,但与国内维族、朝鲜族、蒙古族、高加索女性相比差异有统计学意义(P<0.01)。结论人工修饰双等位基因特异性引物结合SYBR Green Ⅰ荧光PCR法是一种快捷、准确的基因多态性检测方法。广西人群GSTP1基因Ile105Val呈多态性分布,基因型分布频率无性别差异,与其他部分种族存在差异。

基因检测指导中晚期宫颈癌个体化治疗的临床应用

目的探讨 MDR1 (G26677T/A)、 GSTP1 (Ile105Val A/G)、 CDA (A79C)三个基因对中晚期宫颈癌患者临床治疗的指导意义。方法选取46例确诊为中晚期宫颈癌的患者随机分为实验组和对照组,其中实验组23例,对照组23例。通过检测实验组患者外周血中 MDR1 (G26677T/A)、 GSTP1 (Ile105Val A/G)、 CDA (A79C)多态性位点基因型,根据体外检测结果对实验组患者选用敏感度高的药物进行化疗,对照组统一选用紫杉醇联合顺铂化疗,同时两组均进行放射治疗。观察两组患者临床疗效及不良反应。结果实验组患者治疗总有效率为95.65%,对照组为73.91%,差异有统计学意义( P <0.05)。在不良反应方面,两组患者骨髓抑制、胃肠道反应、肝肾功能损害比较,差异均无统计学意义( P >0.05)。同时,实验组中药物敏感组与不敏感组基因型分布比较,差异均有统计学意义( P <0.05)。结论 MDR1 (G26677T/A)、 GSTP1 (Ile105Val A/G)、 CDA (A79C)基因的表达情况与中晚期宫颈癌综合治疗疗效有密切联系,有可能成为指导中晚期宫颈癌选择化疗方案的重要指标。