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通过聚合酶链反应-单链构象多态性分析检测疑似乳腺癌细针穿刺活检标本中的p53基因突变。

Detection of p53 gene mutations in aspiration biopsy specimens from suspected breast cancers by polymerase chain reaction-single strand conformation polymorphism analysis.

作者信息

Sato T, Okazaki A, Okazaki M, Takahashi S, Hirata K

机构信息

Department of Surgery, Sapporo Medical University School of Medicine.

出版信息

Jpn J Cancer Res. 1995 Feb;86(2):140-5. doi: 10.1111/j.1349-7006.1995.tb03031.x.

DOI:10.1111/j.1349-7006.1995.tb03031.x
PMID:7730136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5920757/
Abstract

Genomic DNA was extracted from aspiration biopsy specimens taken from 15 suspected cases of breast cancer, including 7 known cases of breast cancer, and the p53 gene was studied for evidence of mutation by using a polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. In 5 of the 15 cases (33%), p53 gene mutation was identified and these tumors were subsequently histologically diagnosed as malignant. Further, DNA flow cytometry of the 15 tumors demonstrated that 6 (40%) were aneuploid and malignant, whereas 9 (60%) were diploid and benign. It was also found that the tumor cells in 5 aspirated cases that showed p53 gene mutations were all aneuploid, the p53 protein expression was positive, and the tumors were proved to be histologically malignant. It was thus concluded that the detection of p53 gene mutation by PCR-SSCP analysis of aspirated biopsy specimens from suspected breast cancers is a helpful method for achieving a more accurate diagnosis.

摘要

从15例疑似乳腺癌病例(包括7例已知乳腺癌病例)的穿刺活检标本中提取基因组DNA,采用聚合酶链反应 - 单链构象多态性(PCR - SSCP)分析研究p53基因的突变证据。在15例病例中的5例(33%)中鉴定出p53基因突变,这些肿瘤随后经组织学诊断为恶性。此外,对这15个肿瘤进行的DNA流式细胞术分析表明,6个(40%)为非整倍体且为恶性,而9个(60%)为二倍体且为良性。还发现,5例显示p53基因突变的穿刺病例中的肿瘤细胞均为非整倍体,p53蛋白表达呈阳性,且肿瘤经组织学证实为恶性。因此得出结论,通过对疑似乳腺癌的穿刺活检标本进行PCR - SSCP分析来检测p53基因突变是实现更准确诊断的一种有用方法。

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