Oliva M R, Saez G T, Latres E, Cordon-Cardo C
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
Diagn Mol Pathol. 1995 Mar;4(1):54-8. doi: 10.1097/00019606-199503000-00010.
Many human cancers present deletions of the short arm of chromosome 17, which includes the TP53 locus. We detected a new polymorphism in intron 2 of the TP53 gene using PCR-SSCP and used this polymorphic site as a marker to detect loss of heterozygosity in 135 human tumors (73 soft tissue sarcomas, and 48 colorectal and 14 bladder carcinomas). Heterozygosity for this site was 41.5% in this study group and tumor-specific loss of alleles occurred in 43% of informative cases. Allelic losses were more frequently detected at this site than at that in which restriction fragment length polymorphism (RFLP) is located, as detected by the pHp53B probe. It is concluded that this novel approach has several advantages, including detection of a high incidence of informative cases and minimal tissue requirements.
许多人类癌症都存在17号染色体短臂缺失，该短臂包含TP53基因座。我们利用聚合酶链反应-单链构象多态性（PCR-SSCP）检测到TP53基因内含子2中的一种新多态性，并将该多态性位点用作标记，以检测135例人类肿瘤（73例软组织肉瘤、48例结直肠癌和14例膀胱癌）中的杂合性缺失。在该研究组中，该位点的杂合性为41.5%，43%的信息性病例出现了肿瘤特异性等位基因缺失。通过pHp53B探针检测发现，该位点的等位基因缺失比限制性片段长度多态性（RFLP）所在位点更常被检测到。结论是，这种新方法具有几个优点，包括检测到高比例的信息性病例以及对组织的需求最少。
