基因组印迹与人类疾病

GENOMIC IMPRINTING AND HUMAN DISEASES

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 related with some human diseases closely. BWS sometimes invovies parental origin-specific germline chromosomal rearrangment and uniparental disony. PWS and AS are also invovled some abnormal imprinted genes. Turner's syndrome is related with X chromosome imprinted. A wide variety of tumor types have been shown to undergo loss of heterozygosity( LOH ) , uniparental disomy( UPD ) and loss of imprintint( LOI ) . And LOI is one of the most common alternations in human cancer. Because LOI may be reversible and tumor with LOI often shows increased methylation of the H19CpG island, the inhibitor of DNA methylation or drugs with simillar effects may be useful in the treatment of tumor with LOI.