| G6PD／6PGD定量比值法检测新生儿女性杂合子的临床分析 |
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| 引用本文： | 莫莉,蒙元劲,陶静,王凯丽. G6PD／6PGD定量比值法检测新生儿女性杂合子的临床分析[J]. 中国优生与遗传杂志, 2008, 16(11): 81-82 |
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| 作者姓名： | 莫莉 蒙元劲 陶静 王凯丽 |
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| 作者单位： | 柳州医学高等专科学校，广西医科大学第四附属医院 |
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| 摘 要： | 目的探讨G6PD／6PGD定量比值法检测女性杂合子的临床意义。方法使用G6PD／6PGD定量比值法对广西医科大学第四附属医院2005年1月至2008年1月出生的4124名新生儿的脐血进行G6PD缺乏症检测。结果女性杂合子检出率占估计值18．09％。结论G6PD／6PGD定量比值法在检测女性杂合子中的实际检出率低，容易造成大部分杂合子女性漏诊，对一级亲属中有G6PD缺乏者的高危女性应提高其防范意识，减少G6PD缺乏症对新生儿的危害。
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| 关 键 词： | G6PD/6PGD定量比值法 检出率 女性杂合子 |
Clinical analysis on G6PD/6PGD quantitative ratio testing female heterozygote |
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| MO Li,MENG Ynan-jin,TAO Jing,WANG Kai-li. Clinical analysis on G6PD/6PGD quantitative ratio testing female heterozygote[J]. Chinese Journal of Birth Health & Heredity, 2008, 16(11): 81-82 |
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| Authors: | MO Li MENG Ynan-jin TAO Jing WANG Kai-li |
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| Affiliation: | MO Li, MENG Yuan -fin, TAO Jing , WANG Kai - li. ( 1. Liuzhou Medical College, Liuzhou Guangxi 545006, China 2. The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou Guangxi 545005, China) |
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| Abstract: | Objective: To study the significance of G6PD/6PGD quantitative ratio testing female heterozygote.Methods: A total number of 4124 newborn babies were collected from January 2005 to January 2008 in the Fourth Affiliated Hospital of Guangxi Medical University and all the babies received cord blood test for G6PD deficiency.Results: 18.09% of the estimated number of patients were detected female heterozygote.Conclusion: The detection rate is lower than the actual number by using G6PD/6PGD quantitative ratio testing female heterozygote,which can easily cause missed diagnosis.The high-risk women(first degree relatives) with G6PD deficiency should improve awareness in reducing and preventing of G6PD deficiency among newborns. |
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| Keywords: | G6PD/6PGD quantitative ratio Detection rate Female heterozygote |
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