White P S, Kaufman B A, Marshall H N, Brodeur G M
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Genes Chromosomes Cancer. 1993 Jun;7(2):102-8. doi: 10.1002/gcc.2870070207.
Human neuroblastomas are characterized by cytogenetic and molecular analysis as frequently containing deletions of distal 1p. Loss of heterozygosity (LOH) studies have localized a region of shared deletion to 1p35-36.1. Using the single-strand conformation polymorphism (SSCP) technique, we developed polymorphic assays for two genes, the amiloride-sensitive Na+/H+ antiporter (APNH) and tumor necrosis factor receptor 2 (TNFR2) genes, which map to this region. We used these SSCPs to detect LOH in a panel of neuroblastomas. Allelic loss was readily detected in 8 of 39 informative tumors. The SSCP-derived LOH results were consistent with LOH results generated from a set of distal 1p probes that identify restriction fragment length polymorphisms (RFLPs). The APNH locus could be excluded from the region of consistent deletion, but the TNFR2 locus could not be excluded. We conclude that the SSCP technique is a precise and efficient method for detecting LOH in human neoplasia.
人神经母细胞瘤的细胞遗传学和分子分析表明，其常伴有1p远端缺失。杂合性缺失（LOH）研究已将共同缺失区域定位到1p35 - 36.1。利用单链构象多态性（SSCP）技术，我们针对定位于该区域的两个基因——氨氯地平敏感的Na⁺/H⁺反向转运体（APNH）基因和肿瘤坏死因子受体2（TNFR2）基因，开发了多态性检测方法。我们使用这些SSCP来检测一组神经母细胞瘤中的LOH。在39个信息充分的肿瘤中，有8个易于检测到等位基因缺失。SSCP衍生的LOH结果与一组识别限制性片段长度多态性（RFLP）的1p远端探针产生的LOH结果一致。APNH基因座可从一致缺失区域排除，但TNFR2基因座不能排除。我们得出结论，SSCP技术是检测人类肿瘤中LOH的一种精确且有效的方法。
