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基因组印迹与一些人类疾病密切相关,在韦.伯综合征(Beckwith-Wiedemann Syndrome,BWS)中有特异性亲源染色体的重排和单亲二体,在普-威综合征(Prader-Willi Syndrome,PWS)和安吉尔曼综合征(Angelma Syndrome,AS)中存在一些印迹基因,Turner’s综合征与X染色体印迹有关,许多人类肿瘤中常有杂合性丢失(LOH)、单亲二体(UPD)和印迹缺失(LOI)现象,且LOI是人类肿瘤中普遍存在的遗传改变。由于肿瘤中的LOI有可能逆转,且伴有LOI的肿瘤患者常表现为H19CpG岛甲基化,因此人们希望用DNA甲基化抑制剂及其与之作用相似的药物对治疗伴有LOI的肿瘤有益。
Genomic imprinting is closely related to a number of human diseases. Specific rearrangements and single parents of the progeny chromosomes are found in Beckwith-Wiedemann Syndrome (BWS). In the Prader-Willi Syndrome PWS) and Angelma Syndrome (AS). Turner’s syndrome is associated with X-chromosome imprinting. LOH, LLL, and imprinting deletions are often found in many human tumors (LOI) phenomenon, and LOI is a ubiquitous genetic change in human tumors. Since LOI in tumors is likely to be reversed and tumor patients with LOI often exhibit H19 CpG island methylation, it is desirable to use DNA methylation inhibitors and their analogues for the treatment of tumors with LOI Beneficial.