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目的在全基因组 DNA 水平探讨孤雄完全性葡萄胎患者的相关基因,并探索其发生的分子机制。方法短串联重复序列(STR)基因位点鉴定孤雄完全性葡萄胎的亲代来源;人基因组U133 Plus 2.0寡核苷酸芯片检测孤雄完全性葡萄胎和正常早孕绒毛组织中全基因组 DNA 水平的差异表达基因,荧光定量 RT-PCR 技术验证小部分差异表达基因;对寡核苷酸芯片检测的数据进行生物信息学分析。结果 11例经病理检查确诊的完全性葡萄胎患者中,其基因组 DNA 经 STR 基因位点鉴定显示,9例(82%)为父系来源,2例(18%)为双亲来源;寡核苷酸芯片检测显示,和正常早孕绒毛组织相比,孤雄完全性葡萄胎组织中表达上调基因279个,占检测基因的0.72%(279/38500),表达下调基因1710个,占检测基因的4.44%(1710/38500);小部分差异表达基因的荧光定量 RT-PCR 技术检测与寡核苷酸芯片检测结果一致;生物信息学分析显示,差异表达基因涉及多个生物学过程和通路,其中印迹基因的变化和生长激素及人胎盘生长催乳激素基因的变化尤为明显。结论孤雄完全性葡萄胎的发生、发展是涉及多基因、多途径的复杂过程,其中印迹基因和生长激素类基因表达改变起重要作用。
Objective To explore the related genes in complete orchidotrophic complete moles at the level of whole genome DNA and to explore the molecular mechanism of its occurrence. Methods The genomic sequence of short tandem repeat (STR) gene was used to identify the origin of the complete mole of the complete mole. The human genomic U133 Plus 2.0 oligonucleotide microarray was used to detect the level of total genomic DNA in the solitary complete mole and normal early villi Differentially expressed genes were detected by fluorescence quantitative RT-PCR to validate a few of the differentially expressed genes. Bioinformatic analysis was performed on the data detected by oligonucleotide microarray. Results Among the 11 cases of complete hydatidiform mole diagnosed by pathological examination, the genomic DNA was identified by STR loci. Nine cases (82%) were from paternal origin and two (18%) were from parents. Oligonucleotides Chips detection showed that compared with normal early pregnancy villi, there were 279 genes up-regulated in the complete mole of ovary, accounting for 0.72% (279/38500) of the tested genes, and 1710 genes were down-regulated, accounting for 4.44% of the detected genes (1710/38500). Fluorescent quantitative RT-PCR of a few differentially expressed genes was consistent with the results of oligonucleotide microarray. Bioinformatics analysis showed that the differentially expressed genes involved in multiple biological processes and pathways, of which imprinted genes Changes and growth hormone and human placental growth prolactin gene changes are particularly evident. Conclusion The occurrence and development of solitary complete mole is a complicated process involving multiple genes and multiple pathways. The changes of imprinted genes and growth hormone genes play an important role.