CONSTITUTIONAL RELAXATION OF INSULIN-LIKE GROWTH-FACTOR-II GENE IMPRINTING ASSOCIATED WITH WILMS-TUMOR AND GIGANTISM
CONSTITUTIONAL RELAXATION OF INSULIN-LIKE GROWTH-FACTOR-II GENE IMPRINTING ASSOCIATED WITH WILMS-TUMOR AND GIGANTISM
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DOI：
10.1038/ng1293-408
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发表时间：
1993-12-01
期刊：
影响因子：
30.8
通讯作者：
REEVE, AE
中科院分区：
文献类型：
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作者：
OGAWA, O;BECROFT, DM;REEVE, AE
我们检测了10例来自儿童肾脏胚胎肿瘤的正常肾组织中胰岛素样生长因子II基因(IGF2)的印迹。在9名生长发育正常的儿童的肾脏样本中，IGF2 mRNA以单等位基因转录，与正常的基因印记一致。但在一个普遍患有躯体过度生长的儿童中，IGF2从她的肾脏、外周血白细胞和肾母细胞瘤中的两个等位基因转录而来。这些发现表明，基因组印记缺陷可以发生在体质上，导致生长异常和容易患上肾母细胞瘤。
We have examined the imprinting of the insulin-like growth factor II gene (IGF2) in ten normal kidney samples from children with renal embryonal neoplasms. In kidney samples from nine children with normal growth profiles, IGF2 mRNA was transcribed monoallelically, consistent with normal imprinting of the gene. But in one child who had generalized somatic overgrowth, IGF2 was transcribed from both alleles in her kidney, peripheral blood leukocytes and Wilms' tumour. These findings suggest that a defect in genomic imprinting can occur constitutionally, leading to growth abnormalities and predisposition to Wilms' tumour.