Boyes L, Wallace A J, Krajewska-Walasek M, Chrzanowska K H, Clayton-Smith J, Ramsden S
Academic Department of Medical Genetics, Saint-Mary's Hospital, Hathersage Road, Manchester, UK.
Eur J Med Genet. 2006 Nov-Dec;49(6):472-80. doi: 10.1016/j.ejmg.2006.04.004. Epub 2006 May 19.
Angelman syndrome (AS) is a neurodevelopmental disorder caused by failure of expression of the maternal copy of the imprinted UBE3A gene through a variety of mechanisms detected by methylation studies, mutation analysis of UBE3A and FISH. In 10-15% of suspected cases of AS these investigations do not reveal a genetic abnormality. We report here the development of a semi-quantitative dosage PCR technique used to identify sub-microscopic deletions involving UBE3A. Using this method we analysed a panel of 26 patients from 24 families, all fulfilling the clinical criteria for AS. We identified a deletion of UBE3A exons 8-16 in a sibling pair. Analysis of parental samples revealed the same deletion in their phenotypically normal mother. This is an inexpensive and valuable method for detecting UBE3A deletions in a small but important proportion of AS cases of unidentifiable cause.
天使综合征（AS）是一种神经发育障碍，由印记基因UBE3A的母源拷贝通过甲基化研究、UBE3A突变分析和荧光原位杂交（FISH）检测到的多种机制表达失败引起。在10%-15%的疑似AS病例中，这些检查未发现基因异常。我们在此报告一种半定量剂量PCR技术的开发，该技术用于鉴定涉及UBE3A的亚显微缺失。使用这种方法，我们分析了来自24个家庭的26名患者，所有患者均符合AS的临床标准。我们在一对同胞中鉴定出UBE3A外显子8-16缺失。对父母样本的分析显示，其表型正常的母亲存在相同的缺失。这是一种廉价且有价值的方法，可用于检测一小部分但很重要的、病因不明的AS病例中的UBE3A缺失。
