| 新生儿G6PD缺乏症筛查及遗传咨询措施的研究 |
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| 引用本文： | 肖亦立,王留娣,杨伶俐.新生儿G6PD缺乏症筛查及遗传咨询措施的研究[J].中国优生与遗传杂志,2010(2):139-139,138. |
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| 作者姓名： | 肖亦立 王留娣 杨伶俐 |
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| 作者单位： | 上海浦东新区妇幼保健院新生儿科; |
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| 摘 要： | 目的新生儿G6PD缺乏症筛查,计算发病率、基因频率,患儿治疗及遗传咨询。方法筛查用荧光分辨法,确诊用G6PD/6PGD比值测定法。结果2007年10月至2008年10月对我院新出生的9842例新生儿进行了G6PD缺乏症筛查,男性5286例,女性4556例,共检出确诊病例18例。发病率为1.83‰(18/9842),其中男性发病16例,为1.63‰(16/9842),女性2例,为0.2‰(2/9842)。男女比例8∶1。G6PD缺乏症基因频率为0.00303(16/5286)。18例病儿中,祖籍为上海浦东人,发病3例,占16.67%(3/18),祖籍为外地人口发生15例,占83.33%(15/18)。
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| 关 键 词： | 新生儿筛查 G6PD缺乏症 遗传咨询 |
Newborn screening of Glucose-6-phosphate dehydrogense deficiency and the study of genetic counseling |
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| XIAO Yi-li,WANG Liu-di,YANG Ling-li..Newborn screening of Glucose-6-phosphate dehydrogense deficiency and the study of genetic counseling[J].Chinese Journal of Birth Health & Heredity,2010(2):139-139,138. |
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| Authors: | XIAO Yi-li WANG Liu-di YANG Ling-li |
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| Institution: | XIAO Yi-li,WANG Liu-di,YANG Ling-li. (Shanghai Pudong New Area of Maternal , Child Health Hospital,201206 ) |
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| Abstract: | Objective:The newborn screening of G6PD deficiency,estimate the prevalence and genetic frequency,treatment and genetic counseling for G6PD deficiency. Methods: The samples was screened for G6PD deficiency by fluorescent distinguish test,and was diagnosed by G6PD/6PGD ratio. Results: All babies( 9842 newborn) born between October 2007 and October 2008 in Pudong new area maternal and child health hospital ,was screened for G6PD deficiency,5286 male and 4556 female.There were 18 positive results for G6PD defic... |
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| Keywords: | Newborn screening Glucose-6-phosphate dehydrogense deficiency Genetic counseling |
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