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.
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.
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。
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