一个患有1型多发性内分泌腺瘤病的家族中，MEN1基因存在大片段种系缺失。
A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1.
作者信息
Kishi M, Tsukada T, Shimizu S, Futami H, Ito Y, Kanbe M, Obara T, Yamaguchi K
机构信息
Growth Factor Division, National Cancer Center Research Institute, Tokyo.
出版信息
Jpn J Cancer Res. 1998 Jan;89(1):1-5. doi: 10.1111/j.1349-7006.1998.tb00470.x.
Abstract
Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome inherited as an autosomal dominant trait. Various heterozygous germline mutations of the responsible gene, MEN1, have been identified within its exons in many, but not all, affected individuals. We here demonstrate, by DNA polymorphism analysis and gene dosage analysis with polymerase chain reaction (PCR), a large heterozygous germline MEN1 deletion in a kindred with MEN1, in whom no mutation could be detected in the PCR-amplified exons. The deletion spanned an at least 7 kb region containing the entire MEN1 gene. These findings indicate that a large germline deletion of the MEN1 gene, which escapes detection in PCR-based sequence analysis, should be considered as a potential cause of MEN1.
摘要
1型多发性内分泌肿瘤（MEN1）是一种作为常染色体显性性状遗传的家族性癌症综合征。在许多（但并非所有）受影响个体的外显子中，已经鉴定出致病基因MEN1的各种杂合种系突变。我们在此通过DNA多态性分析和聚合酶链反应（PCR）进行的基因剂量分析证明，在一个MEN1家族中存在一个大的杂合种系MEN1缺失，在其PCR扩增的外显子中未检测到突变。该缺失跨越至少7 kb的区域，包含整个MEN1基因。这些发现表明，MEN1基因的一个大的种系缺失在基于PCR的序列分析中未被检测到，应被视为MEN1的一个潜在病因。
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