Zedan W, Robinson P A, High A S
Diagnostic Services, Leeds Dental Institute, University of Leeds, United Kingdom.
Diagn Mol Pathol. 2001 Mar;10(1):41-5. doi: 10.1097/00019606-200103000-00007.
Basal cell nevus syndrome (BCNS; also nevoid basal cell carcinoma syndrome [NBCCS]; Gorlin's syndrome) is an autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocysts, and developmental skeletal defects. Mutation of the human homologue of Drosophila patched (PTC) gene is considered to be the molecular defect in BCNS. PTC mutations have been observed in sporadic tumors including basal cell and ovarian carcinomas and medulloblastoma. The authors report a novel C/T polymorphism in the PTC gene. Forty-eight normal blood samples were screened for the presence of the polymorphism using direct radioactive and automated sequencing of polymerase chain reaction (PCR) products and restriction enzyme digestion. Results demonstrated 20 homozygous T (43%), 11 homozygous C (23%), and 17 heterozygous C/T (35%). The presence of this polymorphism has permitted us to directly detect allelic loss in BCNS, sporadic keratocysts, and basal cell carcinoma (BCC). Further, four BCNS keratocysts and two BCNS-BCC and three non-BCNS keratocysts showed allelic loss of complementary DNA from lesions when compared with their corresponding blood genomic DNA.
基底细胞痣综合征（BCNS；也称为痣样基底细胞癌综合征[NBCCS]；戈林综合征）是一种常染色体显性综合征，其特征为多发性基底细胞癌、角化囊肿和发育性骨骼缺陷。果蝇patched（PTC）基因的人类同源基因的突变被认为是基底细胞痣综合征的分子缺陷。在包括基底细胞癌、卵巢癌和髓母细胞瘤在内的散发性肿瘤中已观察到PTC突变。作者报告了PTC基因中的一种新的C/T多态性。使用聚合酶链反应（PCR）产物的直接放射性和自动化测序以及限制性内切酶消化对48份正常血液样本进行多态性筛查。结果显示20例纯合子T（43%）、11例纯合子C（23%）和17例杂合子C/T（35%）。这种多态性的存在使我们能够直接检测基底细胞痣综合征、散发性角化囊肿和基底细胞癌（BCC）中的等位基因缺失。此外，与相应的血液基因组DNA相比，4例基底细胞痣综合征角化囊肿、2例基底细胞痣综合征-基底细胞癌和3例非基底细胞痣综合征角化囊肿显示病变互补DNA的等位基因缺失。
