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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.

DOI:10.1006/geno.1994.1423
PMID:8001963
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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1
Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.痣样基底细胞癌综合征基因的精细遗传定位
Genomics. 1994 Aug;22(3):505-11. doi: 10.1006/geno.1994.1423.
2
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.15个澳大拉西亚家族中痣样基底细胞癌综合征(NBCCS)基因的进一步定位:连锁分析与杂合性缺失
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Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.对133个减数分裂的分析将痣样基底细胞癌(戈林)综合征基因和范可尼贫血C组基因定位在一个2.6厘摩的区间内,并有助于完善9q22.3的精细图谱。
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A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q.一个跨越9号染色体长臂上痣样基底细胞癌综合征、范可尼贫血C组及着色性干皮病A组基因座的酵母人工染色体连续克隆系。
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Physical mapping of the 5 Mb D9S196-D9S180 interval harboring the basal cell nevus syndrome gene and localization of six genes in this region.包含基底细胞痣综合征基因的5兆碱基D9S196 - D9S180区间的物理图谱绘制以及该区域六个基因的定位。
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Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.与基底细胞痣(戈林)综合征相关的9q22缺失综合征的进一步描述:两例报告及文献复习
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引用本文的文献

1
Downregulation of the Sonic Hedgehog/Gli pathway transcriptional target Neogenin-1 is associated with basal cell carcinoma aggressiveness.音猬因子/胶质瘤相关癌基因通路转录靶点新生蛋白-1的下调与基底细胞癌侵袭性相关。
Oncotarget. 2017 Sep 19;8(48):84006-84018. doi: 10.18632/oncotarget.21061. eCollection 2017 Oct 13.
2
Nevoid basal cell carcinoma syndrome (Gorlin syndrome).痣样基底细胞癌综合征(戈林综合征)。
Orphanet J Rare Dis. 2008 Nov 25;3:32. doi: 10.1186/1750-1172-3-32.
3
DNA copy number losses in human neoplasms.人类肿瘤中的DNA拷贝数缺失
Am J Pathol. 1999 Sep;155(3):683-94. doi: 10.1016/S0002-9440(10)65166-8.
4
Basal cell carcinoma.基底细胞癌
Postgrad Med J. 1997 Sep;73(863):538-42. doi: 10.1136/pgmj.73.863.538.
5
No evidence of mutation in the human PTC gene, responsible for nevoid basal cell carcinoma syndrome, in human primary squamous cell carcinomas of the esophagus and lung.在人类食管和肺原发性鳞状细胞癌中,未发现与痣样基底细胞癌综合征相关的人类PTC基因突变的证据。
Jpn J Cancer Res. 1997 Mar;88(3):225-8. doi: 10.1111/j.1349-7006.1997.tb00370.x.
6
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.痣样基底细胞癌综合征中的大多数种系突变会导致patched蛋白过早终止,且未发现明显的基因型与表型相关性。
Am J Hum Genet. 1997 Jan;60(1):21-6.
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Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer.人类非黑色素瘤皮肤癌中9号染色体q22.3区域的差异等位基因缺失。
Br J Cancer. 1996 Jul;74(2):246-50. doi: 10.1038/bjc.1996.345.
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Presymptomatic testing for genetic diseases of later life. Pharmacoepidemiological considerations.晚年遗传性疾病的症状前检测。药物流行病学考量。
Drugs Aging. 1995 Aug;7(2):117-30. doi: 10.2165/00002512-199507020-00006.