冯·希佩尔-林道病：通过脉冲场凝胶电泳鉴定缺失突变

von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis.

作者信息

Yao M, Latif F, Orcutt M L, Kuzmin I, Stackhouse T, Zhou F W, Tory K, Duh F M, Richards F, Maher E

机构信息

Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, MD 21702.

出版信息

Hum Genet. 1993 Dec;92(6):605-14. doi: 10.1007/BF00420947.

DOI:10.1007/BF00420947

Abstract

Von Hippel-Lindau disease (VHL) is an inherited multisystem neoplastic disorder. We prepared a 2.5-megabase (Mb) restriction map of the region surrounding the VHL gene and identified and characterized overlapping deletions in three unrelated patients affected with VHL. The smallest nested deletion (100 kb) was located within a 510-kb NruI fragment detected by 19-63'. The rearrangements detected will be useful in isolating and evaluating candidate cDNAs for the VHL gene. The detailed physical map will be useful in studying the organization and structure of genes in the VHL region.

摘要

冯·希佩尔-林道病（VHL）是一种遗传性多系统肿瘤性疾病。我们绘制了VHL基因周围区域的2.5兆碱基（Mb）限制性图谱，并鉴定和表征了三名患VHL的无关患者中的重叠缺失。最小的嵌套缺失（100 kb）位于由19-63'检测到的510-kb NruI片段内。检测到的重排将有助于分离和评估VHL基因的候选cDNA。详细的物理图谱将有助于研究VHL区域中基因的组织和结构。

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