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一个包含NBCCS基因座和位于9号染色体22.3区段的新型克鲁佩尔型锌指序列的酵母人工染色体(YAC)重叠群的特征分析。

Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel-type zinc finger sequence on chromosome segment 9q22.3.

作者信息

Chidambaram A, Gailani M, Gerrard B, Stewart C, Goldstein A, Chumakov I, Bale A E, Dean M

机构信息

Intramural Research Support Program, SAIC Frederick, National Cancer Institute, Frederick Cancer Research and Development Center, Frederick, Maryland, USA.

出版信息

Genes Chromosomes Cancer. 1997 Mar;18(3):212-8. doi: 10.1002/(sici)1098-2264(199703)18:3<212::aid-gcc7>3.0.co;2-4.

Abstract

Gorlin's syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a familial or hereditary predisposition to basal cell carcinomas (generally multiple and of early onset), odontogenic keratocysts (jaw cysts), palmar and plantar pits, a wide variety of developmental defects, as well as cancers such as medulloblastomas and ovarian fibromas. The gene for NBCCS has been mapped to human chromosome region 9q22.1-q31 by linkage analysis and by cytogenetic evidence of deletions in this region in patients with the syndrome. This is supported by loss of heterozygosity in tumors of polymorphic marker loci flanked by D9S197 and D9S180. We have utilized sequence tagged site (STS) mapping and somatic cell hybrid panel analysis to construct two overlapping yeast artificial chromosome (YAC) contigs spanning this region of the genome. We used the YAC contigs to identify a new zinc finger gene containing a highly informative microsatellite locus.

摘要

戈林综合征或痣样基底细胞癌综合征(NBCCS)是一种常染色体显性疾病,其特征为家族性或遗传性易患基底细胞癌(通常为多发性且发病早)、牙源性角化囊肿(颌骨囊肿)、掌跖凹陷、多种发育缺陷以及诸如髓母细胞瘤和卵巢纤维瘤等癌症。通过连锁分析以及该综合征患者此区域缺失的细胞遗传学证据,已将NBCCS基因定位于人类染色体区域9q22.1 - q31。位于D9S197和D9S180侧翼的多态性标记位点的肿瘤中杂合性缺失也支持了这一点。我们利用序列标签位点(STS)作图和体细胞杂交板分析构建了两个跨越该基因组区域的重叠酵母人工染色体(YAC)重叠群。我们使用YAC重叠群鉴定了一个包含高度信息丰富的微卫星位点的新锌指基因。

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