【佳学基因检测】健康和多囊卵巢综合征女性子宫内膜管家基因稳定性的变化

全国十大肿瘤基因检测公司排名解释

小组讨论博士医师升学及年度双基练习主题《肿瘤靶向药物的敏感性及有效性》时，学习了基因解码推荐的《Hum Reprod》在. 2012 Jan;27(1):251-6.发表了一篇题目为《健康和多囊卵巢综合征女性子宫内膜管家基因稳定性的变化》妇科累生物靶向药物治疗基因检测临床研究文章。该研究由K H Sadek , F R Cagampang, K D Bruce, N Shreeve, N Macklon, Y Cheong等完成。全面评估了基因突变及肿瘤发生密切相关的子宫内膜基因稳定性的变化，将肿瘤基因检测从肿瘤类型升级到基因变化的类型及其特异性作用。

肿瘤遗传的可能性分析临床研究内容关键词：

多囊卵巢综合征,PCOS,宫内膜,PCR,看家基因,聚合酶链反应,逆转录

肿瘤靶向治疗基因检测临床应用结果

背景：使用看家基因 (HKG) 作为基因表达实时 qPCR 研究的内部控制是基于其固有稳定性的假设。然而，尚不清楚这种稳定性是否在疾病状态下得以维持。为了测试这一点，本研究调查了健康和多囊卵巢综合征（PCOS）女性子宫内膜中特定 HKG 的表达。方法：子宫内膜组织样本取自 PCOS 女性（n=9）和对照组（n= 10）。评估了子宫内膜组织中九个候选内参基因的稳定性；四个编码线粒体蛋白 [ATP5B、琥珀酸脱氢酶复合亚基 A (SDHA)、细胞色素 c-1、甘油醛-3-磷酸脱氢酶]，两个编码核糖体蛋白基因（18s 核糖体 RNA、核糖体蛋白 L13A），一个用于细胞结构 (SDHA) ，一种用于细胞信号传导（β肌动蛋白，ACTB），一种参与DNA修复（拓扑异构酶I，TOP1）。这些 HKG 的表达稳定性是使用 geNORM qbasePLUS 软件计算的，稳定性由 M 值定义，其中 M 值越高表明稳定性越差。此外，分析其周期阈值的变化以确定组间变化的方向，并使用 Mann-Whitney U 检验确定表达的统计学差异。结果：发现在两个 PCOS 子宫内膜中观察到的最稳定的 HKG是 YWHAZ、CYC1 和 ACTB。此外，与健康女性相比，PCOS 女性子宫内膜中的 TOP1 基因表达更高。结论：在所检查的 9 个 HKG 中，只有 YWHAZ、CYC1 和 ACTB 在对照和 PCOS 子宫内膜中均稳定：因此应将这些用作内部对照用于定量逆转录聚合酶链反应分析。因此，已发表的子宫内膜基因表达研究之间的差异可能部分归因于不适当的 HKG 选择，并且未来的基因表达研究应基于已知在疾病和健康状态下稳定性的 HKG，以避免对结果的错误解释。

肿瘤发生与复发转移国际数据库描述：

Background: The use of housekeeping genes (HKG) as internal controls for real-time qPCR studies of gene expression is based on the assumption of their inherent stability. However, it is unclear whether this stability is maintained in disease states. In order to test this, the present study investigated the expression of specific HKG in the endometrium of healthy and polycystic ovarian syndrome (PCOS) women.Methods: Endometrial tissue samples were taken from women with PCOS (n= 9) and controls (n= 10). The stability of nine candidate reference genes in the endometrial tissues were evaluated; four encode mitochondrial proteins [ATP5B, succinate dehydrogenase complex subunit A (SDHA), cytochrome c-1, glyceraldehyde-3-phosphatedehydrogenase], two encode ribosomal protein genes (18s ribosomal RNA, ribosomal protein L13A), one for cell structure (SDHA), one for cell signalling (beta actin, ACTB) and one involved in DNA repair (topoisomerase I, TOP1). The expression stability of these HKGs was calculated using geNORM qbasePLUS software, with stability defined by M-values, where higher M-value indicating less stability. In addition, changes in their cycle threshold values were analysed to determine direction of change between groups, and a Mann-Whitney U-test was used to determine statistical differences in expression.Results: The most stable HKGs observed across both PCOS endometrium were found to be YWHAZ, CYC1 and ACTB. Further TOP1 demonstrated higher gene expression in the endometrium from PCOS women compared with those from healthy women.Conclusions: Of the nine HKGs examined, only YWHAZ, CYC1 and ACTB were stable in both control and PCOS endometrium: these should therefore be used as internal controls for quantitative reverse transcription-polymerase chain reaction analysis. Published discrepancies between endometrial gene expression studies may therefore be due in part to in the inappropriate HKG selection, and future gene expression studies should be based on HKG of known stability in both the disease and healthy states to avoid erroneous interpretation of results.

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