Rapid Diagnosis of Germline p53 Mutation Using the Enzyme Mismatch Cleavage Method
Rapid Diagnosis of Germline p53 Mutation Using the Enzyme Mismatch Cleavage Method
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DOI：
10.1097/00019606-199612000-00007
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发表时间：
1996-12
影响因子：
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通讯作者：
C. Giunta;R. Youil;D. Venter;C. Chow;G. Somers;A. Lafferty;B. Kemper;R. Cotton
中科院分区：
文献类型：
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作者：
C. Giunta;R. Youil;D. Venter;C. Chow;G. Somers;A. Lafferty;B. Kemper;R. Cotton
P53抑癌基因是人类癌症中最常见的突变基因。在Li-Fraumeni综合征和Li-Fraumeni样综合征中，P53基因突变是导致多种癌症易感性的基因改变。我们描述了一位19个月大时出现肾上腺皮质癌，5岁时出现脑部原始神经外胚层肿瘤的患者。这名患者没有癌症家族史。我们使用酶错配裂解(EMC)方法筛查P53基因突变，发现外显子7(密码子248)存在胚系突变。其中一例肿瘤的杂合性丢失分析显示野生型p53等位基因丢失。在我们的报告中，我们证明了EMC方法是一种快速而灵敏的突变检测方法。
The p53 tumor suppressor gene is the most commonly altered gene in human cancers. Germline mutations in p53 are the genetic alteration underlying predisposition to multiple cancers in Li-Fraumeni syndrome and Li-Fraumeni-like syndrome. We describe a patient who presented with developed adrenocortical carcinoma at age 19 months and a cerebral primitive neuroectodermal tumor at age 5 years. The patient did not have a family history of cancer. We used the enzyme mismatch cleavage (EMC) method to screen for mutations in the p53 gene and found a germline mutation in exon 7 (codon 248). Loss of heterozygosity analysis in one tumor revealed loss of the wild-type p53 allele. In our report we demonstrate the EMC method to be a rapid and sensitive method for mutation detection.