Waber P G, Bowcock A M, Arencibia-Mireles O, Nisen P D
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063.
J Natl Cancer Inst. 1991 Aug 7;83(15):1085-8. doi: 10.1093/jnci/83.15.1085.
The distributions of Pvu II and Sph I alleles of the N-myc oncogene (also known as MYCN) were studied in a series of normal individuals and pediatric patients with solid tumors. In the case of Pvu II, where the polymorphic site is located 3' of the gene, the frequencies of the allele were 0.27 (11-kilobase fragment) and 0.73 (8-kilobase fragment) in 43 unrelated normal Caucasians. The frequencies of the allele were similar in 40 non-N-myc-amplified neuroblastomas, 47 Wilms' tumors, and 31 other pediatric tumors. In these cases, the genotypes were in Hardy-Weinberg equilibrium. In 18 N-myc-amplified neuroblastomas, however, the observed genotype frequencies deviated from Hardy-Weinberg equilibrium (P less than .005). Similar observations were made with an Sph I restriction fragment length polymorphism where the polymorphic site is located in intron 2. The differences between amplified and nonamplified neuroblastomas suggest a possible involvement of sequences at or near N-myc in the progression of tumors where the N-myc gene is amplified.
在一系列正常个体和患有实体瘤的儿科患者中研究了N - myc癌基因（也称为MYCN）的Pvu II和Sph I等位基因的分布情况。对于Pvu II，其多态性位点位于该基因的3'端，在43名无关的正常白种人中，该等位基因的频率分别为0.27（11千碱基片段）和0.73（8千碱基片段）。在40例未扩增N - myc的神经母细胞瘤、47例肾母细胞瘤和31例其他儿科肿瘤中，该等位基因的频率相似。在这些病例中，基因型处于哈迪 - 温伯格平衡状态。然而，在18例扩增N - myc的神经母细胞瘤中，观察到的基因型频率偏离了哈迪 - 温伯格平衡（P小于0.005）。对于Sph I限制性片段长度多态性也有类似的观察结果，其多态性位点位于内含子2中。扩增和未扩增的神经母细胞瘤之间的差异表明，在N - myc基因扩增的肿瘤进展过程中，N - myc处或其附近的序列可能参与其中。
