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围绕家族性肾细胞癌染色体易位t(3;8)(p14.2;q24.1)的3号染色体区域的详细遗传图谱和物理图谱。

Detailed genetic and physical map of the 3p chromosome region surrounding the familial renal cell carcinoma chromosome translocation, t(3;8)(p14.2;q24.1).

作者信息

LaForgia S, Lasota J, Latif F, Boghosian-Sell L, Kastury K, Ohta M, Druck T, Atchison L, Cannizzaro L A, Barnea G

机构信息

Jefferson Cancer Institute, Thomas Jefferson Medical College, Philadelphia, Pennsylvania 19107.

出版信息

Cancer Res. 1993 Jul 1;53(13):3118-24.

PMID:8319219
Abstract

Extensive studies of loss of heterozygosity of 3p markers in renal cell carcinomas (RCCs) have established that there are at least three regions critical in kidney tumorigenesis, one most likely coincident with the von Hippel-Lindau gene at 3p25.3, one in 3p21 which may also be critical in small cell lung carcinomas, and one in 3p13-p14.2, a region which includes the 3p chromosome translocation break of familial RCC with the t(3;8)(p14.2;q24.1) translocation. A panel of rodent-human hybrids carrying portions of 3p, including a hybrid carrying the derivative 8 (der(8)(8pter-->8q24.1::3p14.2-->3pter)) from the RCC family, have been characterized using 3p anchor probes and cytogenetic methods. This 3p panel was then used to map a large number of genetically mapped probes into seven physical intervals between 3p12 and 3pter defined by the hybrid panel. Markers have been physically, and some genetically, placed relative to the t(3;8) break, such that positional cloning of the break is feasible.

摘要

对肾细胞癌(RCC)中3p标记杂合性缺失的广泛研究已证实,在肾肿瘤发生过程中至少有三个关键区域,一个很可能与位于3p25.3的冯·希佩尔-林道基因重合,一个在3p21,这在小细胞肺癌中可能也很关键,还有一个在3p13 - p14.2,该区域包含家族性肾细胞癌伴t(3;8)(p14.2;q24.1)易位的3号染色体易位断点。利用3p锚定探针和细胞遗传学方法对一组携带3p部分片段的啮齿动物 - 人类杂种进行了特征分析,其中包括一个携带来自肾细胞癌家族的衍生8号染色体(der(8)(8pter-->8q24.1::3p14.2-->3pter))的杂种。然后使用这个3p组将大量基因定位探针映射到由杂种组定义的3p12和3pter之间的七个物理区间。标记已相对于t(3;8)断点进行了物理定位,部分也进行了基因定位,使得对该断点进行定位克隆成为可能。

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