ヒロタ リョウジ
Ryoji.HIROTA
弘田 量二
- 所属 松本大学大学院 健康科学研究科 健康科学専攻
- 松本大学 人間健康学部 健康栄養学科
- 職種 教授
| 言語種別 | 英語 |
| 発行・発表の年月 | 2003/06 |
| 形態種別 | 研究論文 |
| 標題 | Mutation Screening of the Low-Density Lipoprotein Receptor Gene in Japanese Patients with Familial Hypercholesterolemia from the Kanto Area |
| 執筆形態 | 共著 |
| 掲載誌名 | 生物物理化学 |
| 掲載区分 | 国内 |
| 巻・号・頁 | 47(3),pp.105-110 |
| 著者・共著者 | 弘田 量二, 久保 信彦, 引地 一昌, 中島 久美子, 秦 葭哉, 櫻林 郁之介 |
| 概要 | Forty-one unrelated Japanese patients with heterozygous familial hypercholesterolemia (FH) from the Kanto area (central region) of Japan were screened for mutations in the LDL receptor gene using the polymerase chain reaction (PCR)-restriction enzyme fragment length polymorphism (RFLP) and PCR-heteroduplex analysis methods, followed by sequencing and Southern blotting. Four previously described mutations, 1845+2T->C (by PCR-RFLP), and D412H, K790X and 327insC (by heteroduplex analysis), were positively identified. In 36 (83.7%) of the patients, mutations were not detected, and the detection rate was lower than previously reported from other regions of Japan. Our results suggest that in the Kanto area, a wide variety of the mutations may be associated with FH, and further refinement of this strategy is required to screen effectively for this disease. |
| ISSN | 0031-9082 |
| NAID | 130003607305 |
| PermalinkURL | http://ci.nii.ac.jp/naid/130003607305 |