[1]何海洪,陈艳清,许 瑶,等.东莞东南区域不同人群的G6PD筛查结果分析[J].现代检验医学杂志,2015,30(03):117-119.[doi:10.3969/j.issn.1671-7414.2015.03.035]
　HE Hai-hong,CHEN Yan-qing,XU Yao,et al.Analysis of G6PD Screening Results in Different Group of the Southeast Dongguan[J].Journal of Modern Laboratory Medicine,2015,30(03):117-119.[doi:10.3969/j.issn.1671-7414.2015.03.035]
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东莞东南区域不同人群的G6PD筛查结果分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第30卷
期数:
2015年03期
页码:
117-119
栏目:
综合报道·经验交流
出版日期:
2015-06-10

文章信息/Info

Title:
Analysis of G6PD Screening Results in Different Group of the Southeast Dongguan
文章编号:
1671-7414(2015)03-117-03
作者:
何海洪; 陈艳清; 许 瑶; 陈 锐; 贾 建; 姚万有
东莞市塘厦医院检验科,广东东莞 523721
Author(s):
HE Hai-hong; CHEN Yan-qing; XU Yao; CHEN Rui; JIA Jian; YAO Wan-you
Department of Clinical Laboratory,Tangxia Hospital of Dongguan City,Guangdong Dongguan523721,China
关键词:
葡萄糖-6-磷酸脱氢酶;  女性杂合子;  遗传平衡定律;  产前诊断
分类号:
R446.112
DOI:
10.3969/j.issn.1671-7414.2015.03.035
文献标志码:
A
摘要:
目的 研究东莞东南区域不同人群的葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)基因缺乏率和酶活性测定法在女性杂合子中的检出率。方法 收集东莞市塘厦医院2007年1月～2013年4月的39 475例标本,通过遗传平衡定律计算出不同人群的基因频率和女性杂合子的检出率。结果 不同人群的男性G6PD缺乏率分别是成人组(A)5.03%,新生儿组(B)5.10%,总组别(C)5.06%,各组之间差异无统计学意义(χ2=0.0404,P=0.980)。A,B和C每组的女性杂合子的检出率分别是27.13%,14.49%和23.87%,各组之间差异有统计学意义(χ2=32.26,P=0.000)。结论 G6PD缺乏症在该地区发病率为5.06%,不同人群的G6PD缺乏率无差异,以及采用酶活性检测法在女性杂合子检出率中效果不理想,尤其是在B组中,这有利于在遗传咨询、产前诊断和新生儿出生缺陷等方面提供更全面的信息。
Abstract:
Objective To study different groups of deficiency rate of glucose-6-phosphate dehydrogenase(G6PD)and enzyme activity assayin the detection rate of female heterozygote in the Southeast Dongguan.Methods From January 2007 to April 2013,of 39 475 cases of testresults were collected in Tangxia Hospital of Dongguan city,the gene frequencyand the detection rate of female heterozygote could be calculated through genetic equilibrium law in different group.Results The male deficiency rates of G6PD in different group were Adult group(A)5.03%,Neonatal Group(B)5.10% and Total group(C)5.06%,respectively,and there were no significant difference between each groups(χ2=0.0404,P=0.980).The detection rate of female heterozygote of A,B and C in each groups were 27.13%,14.49%and 23.87%,respectively,and the difference were statistically significant between different groups(χ2=32.26,P=0.000).Conclusion Prevalence of G6PD deficiency in this area was 5.06% and there were differences between the deficiency rate of G6PD in different populations.The enzymeactivity assay in female heterozygote detection rate is not satisfactory,especially in group B,which is conducive to genetic counseling,prenatal diagnosis and birth defects,such as providing more comprehensive information.

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备注/Memo

备注/Memo:
作者简介:何海洪(1983-),男,本科,主管技师,主要从事临床血液学和遗传学,Tel:13600297703,E-mail:hehaihong@163.com。
更新日期/Last Update: 2015-06-10