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1
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Am J Hum Genet. 1994 May;54(5):765-73.
2
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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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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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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。
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Correlation of loss of heterozygosity at chromosome 9q with histological subtype in medulloblastomas.髓母细胞瘤中9号染色体长臂杂合性缺失与组织学亚型的相关性。
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本文引用的文献

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Epithelioma adenoides cysticum; basal cell nevi, agenesis of the corpus callosum and dental cysts; a clinical and autopsy study.腺样囊性上皮瘤；基底细胞痣、胼胝体发育不全与牙囊肿；一项临床与尸检研究
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Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.多发性痣样基底细胞上皮瘤、颌骨囊肿和肋骨分叉。一种综合征。
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Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.在有共同祖先的家族中，多个自愈性鳞状上皮瘤（ESS1）定位于9号染色体q22 - q31区域。
Nat Genet. 1993 Feb;3(2):165-9. doi: 10.1038/ng0293-165.
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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
Am J Hum Genet. 1993 Sep;53(3):760-7.
6
"The basal-cell nevus" by Howell and Caro, January 1959. Commentary: The nevoid basal cell carcinoma syndrome.豪厄尔和卡罗所著的《基底细胞痣》，1959年1月。评论：痣样基底细胞癌综合征
Arch Dermatol. 1982 Oct;118(10):813-26. doi: 10.1001/archderm.118.10.813.
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"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。附录
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The nevoid basal cell carcinoma syndrome.痣样基底细胞癌综合征。
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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.人类多位点连锁分析：连锁检测与重组估计
Am J Hum Genet. 1985 May;37(3):482-98.
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Nevoid basal-cell carcinoma syndrome.痣样基底细胞癌综合征
Medicine (Baltimore). 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002.

痣样基底细胞癌综合征基因的定位

Localization of the gene for the nevoid basal cell carcinoma syndrome.

作者信息

Goldstein A M, Stewart C, Bale A E, Bale S J, Dean M

机构信息

Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892.

出版信息

Am J Hum Genet. 1994 May;54(5):765-73.

PMID:7909984
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1918262/
Abstract

The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder characterized by multiple basal cell carcinomas, jaw cysts, pits of the palms and/or soles, ectopic calcification, and skeletal malformations. The NBCC gene has recently been mapped to chromosome 9q22.3-9q31. In order to further define the region containing the NBCC gene, we have analyzed 137 individuals from eight families for linkage, using 11 markers from the region. Eight markers showed statistically significant evidence for linkage to NBCC. Three markers (D9S180, ALDOB, and D9S173) showed no definite recombination with the disease locus. All families showed some evidence for linkage to markers in this region. On the basis of the inspection of individual recombinants and previously published information about map location, we suggest the following order for the markers: D9S119-D9S12-D9S197-D9S196-(NBCC,D9S180 -D9S173,ALDOB)-D9S109- D9S127-(D9S53,D9S29). We are currently developing YAC contigs for the most closely linked markers, to further refine the location of the NBCC gene.

摘要

痣样基底细胞癌综合征（NBCC）是一种常染色体显性多系统疾病，其特征为多发性基底细胞癌、颌骨囊肿、手掌和/或足底凹陷、异位钙化以及骨骼畸形。NBCC基因最近已被定位于9号染色体的9q22.3 - 9q31区域。为了进一步确定包含NBCC基因的区域，我们使用该区域的11个标记，对来自8个家族的137名个体进行了连锁分析。8个标记显示出与NBCC连锁的统计学显著证据。3个标记（D9S180、ALDOB和D9S173）与疾病位点未出现明确的重组。所有家族均显示出与该区域标记连锁的一些证据。根据对个体重组体的检查以及先前公布的有关图谱位置的信息，我们建议标记的顺序如下：D9S119 - D9S12 - D9S197 - D9S196 -（NBCC，D9S180 - D9S173，ALDOB）- D9S109 - D9S127 -（D9S53，D9S29）。我们目前正在为连锁最紧密的标记构建酵母人工染色体重叠群，以进一步精确定位NBCC基因。