奥尔布赖特遗传性骨营养不良中的印记现象。
Imprinting in Albright's hereditary osteodystrophy.
作者信息
Davies S J, Hughes H E
机构信息
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.
出版信息
J Med Genet. 1993 Feb;30(2):101-3. doi: 10.1136/jmg.30.2.101.
Abstract
Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic imprinting in the expression of this disorder.
摘要
对已发表的涉及两代或更多代的奥尔布赖特遗传性骨营养不良（AHO）报告的综述显示，母系传递明显过多。该基因的完全表达（AHO + 激素抵抗，假性甲状旁腺功能减退）发生在母系传递的病例中，而当基因从父亲遗传时则为部分表达（仅AHO），这表明基因组印记参与了这种疾病的表达。
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