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痣样基底细胞癌综合征基因的精细遗传定位

Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.

作者信息

Wicking C, Berkman J, Wainwright B, Chenevix-Trench G

机构信息

Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia.

出版信息

Genomics. 1994 Aug;22(3):505-11. doi: 10.1006/geno.1994.1423.

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS, or Gorlin syndrome) is a cancer predisposition syndrome characterized by multiple basal cell carcinomas and diverse developmental defects. The gene responsible for NBCCS, which is most likely to be a tumor suppressor gene, has previously been mapped to 9q22.3-q31 in a 12-cM interval between the microsatellite marker loci D9S12.1 and D9S109. Combined multipoint and haplotype analyses of additional polymorphisms in this region in our collection of Australasian pedigrees have further refined the localization of the gene to between the markers D9S196 and D9S180, an interval reported to be approximately 2 cM.

摘要

痣样基底细胞癌综合征(NBCCS,或戈林综合征)是一种癌症易感性综合征,其特征为多发性基底细胞癌和多种发育缺陷。导致NBCCS的基因很可能是一种肿瘤抑制基因,此前已被定位到9q22.3 - q31,位于微卫星标记位点D9S12.1和D9S109之间12厘摩的区间内。在我们收集的澳大拉西亚家系中,对该区域其他多态性进行的联合多点分析和单倍型分析,进一步将该基因的定位细化到标记D9S196和D9S180之间,据报道该区间约为2厘摩。

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