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http://ir.cmu.edu.tw/ir/handle/310903500/30845
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| 題名: | Effects of aspirin on the in vitro and in vivo acetylation of 2-aminofluorene in Sprague-Dawley rats |
| 作者: | Lin, SS;Yu, CS;Wu, JY;Tyan, YS;Hsia, TC;Lin, WC;Chung, JG |
| 貢獻者: | 醫學院醫學系微生物學科;China Med Univ, Sch Med, Dept Microbiol, Taichung 404, Taiwan;Chungtai Inst Hlth Sci & Technol, Dept Radiol Technol, Taichung, Taiwan;China Med Univ, Ctr Gen Educ, Taichung 404, Taiwan;China Med Univ, Dept Pharmacol, Taichung 404, Taiwan;China Med Univ, Dept Microbiol, Taichung 404, Taiwan;Armed Forces Taichung Gen Hosp, Dept Chest Surg, Taichung, Taiwan;Chung Shan Med Univ, Dept Radiol, Taichung, Taiwan;China Med Univ Hosp, Dept Internal Med, Taichung, Taiwan |
| 日期: | 2005 |
| 上傳時間: | 2010-09-24 15:03:13 (UTC+8) |
| 出版者: | INT INST ANTICANCER RESEARCH |
| 摘要: | Objective Steroid 11 beta-hydroxylase (CYP11B1) deficiency, an autosomal recessive inherited disease, accounts for 5-8% of congenital adrenal hyperplasia (CAH). It is mainly caused by mutations of nucleotide substitutions in the coding region. Patients and Methods The study reports on a 9-year-old Chinese boy who presented with a bone age of 16 years, an enlarged penis, an accelerated growth rate since early childhood and hypertension (160-170/100-110 mmHg) for 3 years. Because it shares 95% sequence homology with aldosterone synthetase (CYP11B2), we developed gene-specific primers for differential PCR amplification of the CYP11B1 gene. The secondary PCR products of nine exons of the CYP11B1 gene were then subjected to single-strand conformation polymorphism (SSCP) analysis and DNA sequencing. The serum hormone levels were also determined. Results We found that the boy diagnosed with CAH due to 11 beta-hydroxylase deficiency carried mutations of A306V (GCC- > GTC) and T318P (ACG- > CCG) in two respective chromosomes. The hormone assay showed that the 11-deoxycortisol level was higher (667 nmol/l) than normal and was further increased after ACTH stimulation (1206 nmol/l). Conclusions These two mutations have not previously been described in the CYP11B1 gene. The discovery of these two novel mutations increases our knowledge of CAH caused by 11 beta-hydroxylase deficiency. |
| 關聯: | IN VIVO 19(2):475-481 |
| 顯示於類別: | [醫學系] 期刊論文
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