Ieiri T, Ohuchi T, Oikawa S
Department of Clinical Pathology/Laboratory Medicine, Dokkyo University School of Medicine, Tochigi.
Rinsho Byori. 1994 Sep;42(9):931-7.
PCR technique is a powerful tool for genetic analysis of various diseases including infectious diseases, inherited diseases and malignant tumors. Some of our experiences and problems in gene level diagnosis using mainly the PCR technique newly introduced to our clinical laboratory were discussed. A case of congenital goiter in which the analysis at the gene level was the first demonstration of a mutation associated with the abnormal expression of the thyroglobulin gene in man, is also presented. The direct demonstration from the sputum of the presence of M. tuberculosis DNA by PCR will be a great benefit to the clinician in the diagnosis and treatment of tuberculous infection. At present, it is possible to report the results within 2 days from the submission of samples, but further considerations on the sensitivity and specificity are required. The clinical laboratory will be required to accumulate sufficient knowledge of gene level analysis of various disease conditions and master the techniques.
聚合酶链反应（PCR）技术是对包括传染病、遗传病和恶性肿瘤在内的各种疾病进行基因分析的有力工具。本文讨论了我们主要使用新引入临床实验室的PCR技术在基因水平诊断方面的一些经验和问题。还介绍了一例先天性甲状腺肿病例，其中基因水平分析首次证实了人类甲状腺球蛋白基因异常表达相关的突变。通过PCR直接从痰液中检测结核分枝杆菌DNA的存在，将对临床医生诊断和治疗结核感染有很大帮助。目前，从提交样本起2天内就可以报告结果，但还需要进一步考虑敏感性和特异性。临床实验室需要积累足够的关于各种疾病状态基因水平分析的知识并掌握相关技术。
