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17号染色体17q12 - 21区域BRCA1基因座的物理图谱及候选基因

A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21.

作者信息

Albertsen H M, Smith S A, Mazoyer S, Fujimoto E, Stevens J, Williams B, Rodriguez P, Cropp C S, Slijepcevic P, Carlson M

机构信息

Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112.

出版信息

Nat Genet. 1994 Aug;7(4):472-9. doi: 10.1038/ng0894-472.

DOI:10.1038/ng0894-472
PMID:7951316
Abstract

We have constructed a physical map of a 4 cM region on chromosome 17q12-21 that contains the hereditary breast and ovarian cancer gene BRCA1. The map comprises a contig of 137 overlapping yeast artificial chromosomes and P1 clones, onto which we have placed 112 PCR markers. We have localized more than 20 genes on this map, ten of which had not been mapped to the region previously, and have isolated 30 cDNA clones representing partial sequences of as yet unidentified genes. Two genes that lie within a narrow region defined by meiotic breakpoints in BRCA1 patients have been sequenced in breast cancer patients without revealing any deleterious mutations. These new reagents should facilitate the identification of BRCA1.

摘要

我们构建了17号染色体q12 - 21区域4厘摩的物理图谱,该区域包含遗传性乳腺癌和卵巢癌基因BRCA1。该图谱由137个重叠的酵母人工染色体和P1克隆组成的重叠群构成,我们在上面定位了112个聚合酶链反应(PCR)标记。我们已在该图谱上定位了20多个基因,其中10个基因以前未定位到该区域,并且已分离出30个代表尚未鉴定基因部分序列的互补DNA(cDNA)克隆。对BRCA1患者减数分裂断点所定义的狭窄区域内的两个基因进行了测序,未在乳腺癌患者中发现任何有害突变。这些新试剂应有助于BRCA1的鉴定。

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