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52 巻 (2008)
- 4 号 p. 177-
- 3 号 p. 45-
- 2 号 p. 15-
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52 巻, 4 号
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シンポジウム：遺伝子診断2007―解析法の進歩と臨床応用への展望
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森部 豊輝原稿種別: シンポジウム2：遺伝子診断2007―解析法の進歩と臨床応用への展望
2008 年 52 巻 4 号 p. 177-182
発行日: 2008年
公開日: 2009/12/04
ジャーナル フリーIn recent years, a genetic testing has become widely used in the medical fields. It gives more information than classical clinical testing, and the information is used for diagnosis and medical treatment of diseases. Nevertheless, most genetic testings employed in a routine clinical testing is for screening of infectious diseases (nucleic acid-based testing), but are not yet commonly prevalent in the fields of human genetic testing, so-called genomic testing. On the contrast, because of the studies on human genome along with advancement in molecular biological technologies, some genes associating with cancers and common diseases were identified, and they are being applied to clinical medicine. As a future trend for practical use and common prevalence, human genetic testing would take 3 directions of tests for personalized medicine (companion diagnostics), screening tests (targeted screening), and standardization of tests. Here we introduce the latest R&D activities for a human genetic test at Roche Diagnostics K.K.
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三谷 康正原稿種別: シンポジウム2：遺伝子診断2007―解析法の進歩と臨床応用への展望
2008 年 52 巻 4 号 p. 183-187
発行日: 2008年
公開日: 2009/12/04
ジャーナル フリーWe developed a simple and rapid single nucleotide polymorphism (SNP) detection system named SMart Amplification Process (SMAP). SMAP is an isothermal nucleic acid amplification method, which uses novel Aac DNA Polymerase isolated from Alicyclobacillus acidocaldarius. Aac DNA Polymerase is in particular suitable isothermal amplification processes having a strand displacement activity. Moreover, SMAP employs an asymmetrical primer design and uses Thermus aquaticus MutS (Taq MutS). Taq MutS is a mismatch binding protein providing a highly effective approach to achieving complete suppression of background amplification derived from mis-amplified DNA. Therefore DNA amplification only occurs with a perfect primer match, and amplification alone is sufficient to identify the target allele. These features of SMAP enable us to perform rapid and precise SNP detection assays. SMAP has immense potential for the development of medical diagnostic products, as for example, to rapidly detect EGFR or K-ras gene mutations at high accuracy. The development of molecular diagnostics along with an increasing knowledge about genomic information has caused a paradigm shift away from the standard protocol of medical care towards pharmacogenomics. This new field of medical science is based on the growing knowledge about genetic alterations and their relationship to specific phenotypes, such as disease predisposition, drug metabolism, and disease development. Due to its ability for high-throughput gene analysis and SNP detection, SMAP is certain to have significant impact in this field.
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豊田 実, 鈴木 拓, 篠村 恭久, 今井 浩三原稿種別: シンポジウム2：遺伝子診断2007―解析法の進歩と臨床応用への展望
2008 年 52 巻 4 号 p. 189-192
発行日: 2008年
公開日: 2009/12/04
ジャーナル フリーDNA methylation plays an important role in silencing cancer related genes. Recent studies have revealed that genes involved in cell cycle regulation, apoptosis, DNA repair, invasion, metastasis, and immune response, are shown to be aberrantly methylated in cancers. Subsets of cancers show simultaneous methylation of multiple genes, indicating that these tumors have CpG island methylator phenotype (CIMP). Colorectal and gastric cancers with CIMP show distinct clinicopathological features, and appear to be caused by increased rate of de novo methylation. DNA methylation changes can be detected with a high degree of sensitivity, and can potentially be important for diagnosis of cancer. Various types of cancer can be detected by analyzing methylation in DNA obtained from serum, stool, and pancreatic juice. Because DNA methylation is an epigenetic change, expression of silenced genes can be reversed by treating cells with DNA methyltransferase inhibitors such as 5-aza-2'-deoxycytidine (decitabine).
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