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对跨越11号染色体p15.5上c-Ha-Ras和MUC2之间区域的一个500千碱基重叠群的特征分析。

Characterization of a 500-kb contig spanning the region between c-Ha-Ras and MUC2 on chromosome 11p15.5.

作者信息

Paris M J, Williams B R

机构信息

Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA.

出版信息

Genomics. 2000 Oct 15;69(2):196-202. doi: 10.1006/geno.2000.6339.

Abstract

The 11p15.5 region is associated with a broad range of diseases, including childhood acute myeloid leukemia; non-small cell lung carcinoma; arthrogryposis multiplex congenita, distal type 2B; and bladder cancer. Since targets for these diseases are unknown, we have constructed a physical map consisting of BAC and PAC clones spanning the region from the HRAS1 gene to the cluster of mucin genes on 11p15.5. The contig spans approximately 500 kb and includes 13 genes (9 novel), 9 STSs (5 novel), and 1 SNP and builds upon a published physical map spanning the region from the telomere to the HRAS gene. In addition, we expand the mucin gene cluster located on 11p15.5 to include a novel mucin-like gene (MUCDHL) located less than 250 kb telomeric to MUC6. The identification of potential disease genes within an organizational and evolutionary context provides valuable clues to function and as such will benefit our understanding of this region of the genome.

摘要

11p15.5区域与多种疾病相关,包括儿童急性髓系白血病、非小细胞肺癌、先天性多发性关节挛缩症远端2B型以及膀胱癌。由于这些疾病的靶点尚不清楚,我们构建了一个物理图谱,该图谱由跨越11p15.5区域从HRAS1基因到粘蛋白基因簇的细菌人工染色体(BAC)和P1人工染色体(PAC)克隆组成。该重叠群跨度约500 kb,包含13个基因(9个为新基因)、9个序列标签位点(STSs,5个为新位点)和1个单核苷酸多态性(SNP),并基于已发表的从端粒到HRAS基因的物理图谱构建而成。此外,我们将位于11p15.5的粘蛋白基因簇进行了扩展,纳入了一个位于MUC6端粒侧不到250 kb处的新型粘蛋白样基因(MUCDHL)。在组织和进化背景下鉴定潜在的疾病基因,为其功能提供了有价值的线索,因此将有助于我们对基因组这一区域的理解。

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