Compton J G, Goldstein A M, Turner M, Bale A E, Kearns K S, McBride O W, Bale S J
Laboratory of Skin Biology, NIAMS, Bethesda, MD 20892.
J Invest Dermatol. 1994 Aug;103(2):178-81. doi: 10.1111/1523-1747.ep12392682.
The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized primarily by multiple basal cell carcinomas, odontogenic keratocysts, and pits of the palms and soles. Tumor deletion studies and linkage analysis in Caucasians have revealed that the gene is on chromosome 9q. To further refine the location of the nevoid basal cell carcinoma syndrome locus, we tested linkage to this region in three families. Evaluation of recombinants suggested that the nevoid basal cell carcinoma syndrome locus lies in the interval defined distally by D9S127. Our data, together with existing published data defining D9S12 as a proximal flanking marker, refine the location of nevoid basal cell carcinoma syndrome to an 8.3-cM interval. Two of the families studied were African-American and show a notable variation in phenotypic expression in which affected individuals developed few skin cancers. However, despite clinical heterogeneity, our data are consistent with the hypothesis that the same locus is involved in these African-American families.
痣样基底细胞癌综合征是一种常染色体显性疾病，主要特征为多发性基底细胞癌、牙源性角化囊肿以及手掌和足底的凹陷。对白种人的肿瘤缺失研究和连锁分析表明，该基因位于9号染色体长臂。为进一步精确痣样基底细胞癌综合征基因座的位置，我们对三个家系进行了该区域的连锁检测。对重组体的评估表明，痣样基底细胞癌综合征基因座位于由D9S127向远侧界定的区间内。我们的数据与已发表的将D9S12定义为近侧侧翼标记的数据相结合，将痣样基底细胞癌综合征的位置精确到了一个8.3厘摩的区间。所研究的两个家系为非裔美国人，其表型表达存在显著差异，患病个体发生的皮肤癌较少。然而，尽管存在临床异质性，我们的数据与这些非裔美国家系中涉及相同基因座的假说相符。
