| 柳州地区女性新生儿高胆红素血症患儿G6PD基因突变类型及临床特点--附七例报告 |
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| 引用本文： | 杜娟,沙林林,谢建生.柳州地区女性新生儿高胆红素血症患儿G6PD基因突变类型及临床特点--附七例报告[J].中国优生与遗传杂志,2005,13(5):28-29. |
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| 作者姓名： | 杜娟 沙林林 谢建生 |
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| 作者单位： | 1. 广西医科大学第五附院,柳州市人民医院,545001
2. 深圳市妇女儿童医院 |
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| 基金项目： | 广西柳州市科技局科研项目 |
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| 摘 要： | 目的探讨柳州地区籍女性新生儿黄疸儿G6PD基因突变类型与其临床表现特点之间的关系.方法采用基因芯片技术检测了7例柳州地区籍女性新生儿黄疸儿的G6PD基因突变类型,并对其临床表现特点进行分析.结果 (1)7例女患儿G6PD基因突变共检出4种类型,包括G1388A、A95G、G1376T及G392T,其中5例为杂合子.(2)G6PD酶学检查5例表现为中间型,且临床黄疸症状较轻,治疗效果好.结论柳州地区籍女性新生儿黄疸儿的G6PD基因突变类型多见G1388A、A95G、G1376T突变,以杂合子改变占多数.
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| 关 键 词： | 新生儿 女性 高胆红素血症 葡萄糖-6-磷酸脱氢酶(G6PD) 基因 |
| 文章编号： | 1006-9534(2005)-05-0028-02 |
| 修稿时间： | 2004年8月20日 |
The mutation of G6PD and its representation in the female neonatal jaundice in the Liuzhou district, Guangxi(7 cases reports) |
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| DU Juan,XIE Jan-sheng,SHA Lin-lin.The mutation of G6PD and its representation in the female neonatal jaundice in the Liuzhou district, Guangxi(7 cases reports)[J].Chinese Journal of Birth Health & Heredity,2005,13(5):28-29. |
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| Authors: | DU Juan XIE Jan-sheng SHA Lin-lin |
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| Abstract: | Objective:To study the relationship between the mutant types of G6PD and its representation of the female neonatal jundice from the Liuzhou district. Methods:The mutant types of the 7 female neonatal jundice from the Liuzhou district were detected with the DNA microchips,and their clinical features were studied.Results:(1)4 mutant types of G6PD were fund,namely G1388A,A95G,G1376T and G392T,the 5 were hybrid type.(2)The 5 cases represented as the middle type of enzymology,and the clinic syptom were relatively mild with fairly favorable prognosis. Conclution:The main mutant types of G6PD in the female neonatal jundice from the Liuzhou district were G1388A,A95G,G1376T and G392T,in which the most were hybrid type. |
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| Keywords: | Neonatal Jundice Female G6PD Gene mutation$$$$ |
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