Xie J, Quinn A, Zhang X, Bare J, Rothman A, Collins C, Cutone S, Rutter M, McCormick M K, Epstein E
Department of Dermatology, San Francisco General Hospital, California 94110, USA.
Genes Chromosomes Cancer. 1997 Apr;18(4):305-9.
The basal cell nevus syndrome (Gorlin syndrome) is characterized by multiple basal cell carcinomas and diverse developmental defects. The gene responsible for this syndrome has been mapped previously to a 2 cM interval between D9S196 and D9S 180 at 9q22.3, and very recently mutations of a candidate gene in this region--the human homolog of the Drosophila patched gene have been identified. We report here on physical mapping studies integrating a contig of yeast artificial chromosomes and bacterial artificial chromosomes with a long-range map spanning approximately 5 Mb between the recombination-determined flanking markers. Six genes have been mapped to this interval.
基底细胞痣综合征（Gorlin综合征）的特征为多发性基底细胞癌和多种发育缺陷。此前已将导致该综合征的基因定位到9q22.3上D9S196和D9S180之间2厘摩的区间，最近已鉴定出该区域一个候选基因——果蝇patched基因的人类同源基因的突变。我们在此报告物理图谱研究，该研究将酵母人工染色体和细菌人工染色体的重叠群与跨越重组确定的侧翼标记之间约5兆碱基的长程图谱整合在一起。六个基因已定位到该区间。
