Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.
Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.
复制标题
痣基底细胞癌综合征基因的精细遗传图谱。
DOI：
10.1006/geno.1994.1423
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发表时间：
1994
期刊：
影响因子：
4.4
通讯作者：
G. Chenevix
中科院分区：
文献类型：
--
作者：
C. Wicking;Jenny Berkman;Brandon J. Wainwright;G. Chenevix
新生基底细胞癌综合征(NBCCS，或Gorlin综合征)是一种以多发性基底细胞癌和各种发育缺陷为特征的癌症易感综合征。负责NBCCS的基因最有可能是肿瘤抑制基因，此前已被定位于9q22.3-Q31，位于微卫星标记基因D9S12.1和D9S109之间12 cM的间隔内。在我们收集的澳大利亚家系中，结合多点和单倍型分析该区域的其他多态，进一步细化了该基因在标记D9S196和D9S180之间的定位，据报道，间隔约为2 cM。
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.