的分子基础UDP-galactose-4-epimerase (GALE)不足半乳糖血症在韩国的病人。
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Kim金桥公园高清,公园KU,胫骨CH,杨西南,李DH,歌YH、歌曲J
的分子基础UDP-galactose-4-epimerase (GALE)不足半乳糖血症在韩国的病人。
麝猫医学。2005;11 - 12月7 (9):646 - 9。
- PubMed ID
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16301867 (在PubMed]
- 文摘
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目的:UDP-galactose-4-epimerase (GALE)不足半乳糖血症是一种常染色体隐性遗传疾病,该病的患病率不同民族之一。我们旨在调查韩国患者减毒的分子特征盖尔活动和galactose-1-phosphate水平升高血液中。方法:为了描述分子潜在缺陷缺大风,大风基因测序7病人表现出严重的活动减少。PCR-RFLP进行确认测序发现的突变的存在。结果:9个突变被确认:8错义突变(p。A25V, p。R40C, p。D69E, p。E165K, p。R169W, p。R239W, p。G302D, p.R335H)和一个无义突变(p.W336X)。除了p。R335H,所有这些突变是小说。六个患者复合杂合子(p.D69E / p。G302D p.R40C / p。R169W p.D69E / p。E165K, p。R239W/p.R335H, p.A25V/p.R169W, and p.G302D/p.R335H) and the remaining patient had only one mutation (p.W336X/not detected). Thirty patients with moderately reduced GALE activity were also tested by PCR-RFLP for the presence of the above mutation, and mutations were detected in 17 of these 30 patients. The frequency of p.G302D (9/30), p.R239W (6/30) and p.R169W (5/30) in our Korean patients with GALE deficiency galactosemia was relatively high. CONCLUSIONS: We detected 9 mutations of the GALE gene in Korean galactosemia patients, and confirmed allelic heterogeneity in this disease.