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许多资料表明,来自父母双方的基因在功能上存在着差异,这一现象被称为亲代印迹。亲代印迹与一些遗传性疾病的外显率、表现度及肿瘤易患性等有关。越来越多的证据说明来自父母双方的染色体或基因存在着功能上的差异,这种由双亲性别决定的基因功能上的差异被称之为亲代印迹(parental imprinting)。可以肯定印迹与基因在男女生殖细胞分化过程中受到不同的修饰有关,这些修饰使得一条染色体或一个基因包含了亲代来源的信息。目前尚不知道印迹发生的分子机理,可能与基因的甲基化有关。本文综述了基因组印迹与人类遗传病的关系。
Many sources indicate that there are functional differences in the genes from both parents, a phenomenon known as parental imprinting. Parental imprinting is associated with penetrance, performance, and susceptibility to cancer in some hereditary diseases. There is a growing body of evidence that there are functional differences in chromosomes or genes from both parents, a function of which is dictated by parental gender differences in parental imprinting. It can be affirmed that imprinting is associated with different modifications of genes during germ cell differentiation between men and women that allow one chromosome or one gene to contain information from the parental origin. At present, it is not known whether the molecular mechanism of imprinting may be related to the methylation of genes. This article reviews the relationship between genomic imprinting and human genetic disease.