Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia

Karmela Barisic; Lada Rumora; Marija Grdic; Dubravka Juretic

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Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia

机译：克罗地亚健康人群中半乳糖-1-磷酸铀酰转移酶基因突变的频率

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Galactosemia is a human disease caused by deficient activity of each one of the three enzymes involved in galactose metabolism, galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and UDP-galactose-4-epimerase (GALE). Absence or deficien%Galaktozemija je bolest uzrokovana nedostatkom jednog od tri enzima koji sudjeluju u metabolizmu galak-toze, galaktokinaze (GALK), galaktoza-1-fosfat uridil transferaze (GALT) ili galaktoza-4 epimeraze (GALE). Nedostatak ili smanjena katalitička aktivnost GALT-a uzroci su klasične galaktozemije. Budući da klasična galaktozemija pokazuje alelnu heterogenost u različitim populacijama i etničkim skupinama, cilj ovog istraživanja bio je utvrditi pojavnost alela za Q188R, N314D i K285N mutacije u zdravoj populaciji u Hrvatskoj. Istraživanje

机译：半乳糖血症是一种人类疾病，由参与半乳糖代谢的三种酶，半乳糖激酶（GALK），半乳糖-1-磷酸尿苷基转移酶（GALT）和UDP-半乳糖-4-表异构酶（GALE）各自的活性不足引起。缺乏或缺乏半乳糖血症是由参与半乳糖，半乳糖激酶（GALK），半乳糖-1-磷酸尿苷基转移酶（GALT）或半乳糖-4差向异构酶（GALE）代谢的三种酶之一缺乏引起的疾病。 GALT缺乏或催化活性降低是经典半乳糖血症的原因。由于经典半乳糖血症在不同人群和种族中表现出等位基因异质性，因此本研究的目的是确定克罗地亚健康人群中Q188R，N314D和K285N突变的等位基因发生情况。研究

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来源
《Croatica Chemica Acta》 |2008年第1期|125-130|共6页
作者
Karmela Barisic; Lada Rumora; Marija Grdic; Dubravka Juretic;
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作者单位

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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);
原文格式 PDF
正文语种 eng
中图分类
关键词
galactosemia; galactose-1-phosphate uridyl transferase (GALT); Q188R; K285N; N314D; IVS5-24 GA;

机译：半乳糖血症半乳糖-1-磷酸尿嘧啶转移酶（GALT）;Q188R;K285N;N314D;IVS5-24 G A;

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1. Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia [J] . Bari?i? Karmela, Grdi? Marija, Jureti? Dubravka, Croatica chemica acta . 2008,第1期

机译：克罗地亚健康人群中半乳糖-1-磷酸铀酰转移酶基因突变的频率
2. Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population. [J] . Lukac Bajalo J, Marc J, Mlinar B, Clinical chemistry and laboratory medicine: CCLM . 2002,第11期

机译：Q188R和N314D突变的频率和IVS5-24G>在斯洛文尼亚人群中的半乳糖-1-磷酸尿苷转移酶（GALT）基因的内含子变异。
3. Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population. [J] . Lukac-Bajalo J, Kuzelicki NK, Zitnik IP, Clinical Biochemistry . 2007,第5a6期

机译：斯洛文尼亚人口中半乳糖-1-磷酸尿嘧啶转移酶基因K285N突变的发生频率更高。
4. Analyzing the Mutation Frequencies and Correlation of Genetic Diseases in Worldwide Populations Using Big Data Processing, Clustering, and Predictive Analytics [C] . Kae Sawada, Michael W. Clark, Nabil Alshurafa, International Conference on Computational Science and Computational Intelligence . 2017

机译：使用大数据处理，聚类和预测分析来分析全球人群的突变频率和遗传疾病的相关性
5. Roles for Terminal Uridyl Transferases in the Post-Transcriptional Regulation of Developmental miRNAs. [D] . Thornton, James Edward. 2013

机译：终端的铀酰转移酶在发育miRNA的转录后调控中的作用。
6. Simultaneous Amplification Detection and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene [O] . Mohamed Jama, Lesa Nelson, Rong Mao, 2007

机译：同时扩增检测和分析半乳糖-1-磷酸铀酰转移酶基因中的常见突变。
7. Erratum to: A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family [O] . Ramandeep Singh, Gurjit Kaur, Babu R. Thapa, 2011

机译：错误至：一种古典半乳糖瘤的案例：单乳糖-1-磷酸三种磷酸三磷酸尿苷转移酶（Galt）基因的3个不同突变的鉴定与表征

Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia

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