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突尼斯人群中葡萄糖-6-磷酸脱氢酶临界值的测定

Determination of glucose-6-phosphate dehydrogenase cut-off values in a Tunisian population.

作者信息

Laouini Naouel, Sahli Chaima Abdelhafidh, Jouini Latifa, Haloui Sabrine, Fredj Sondes Hadj, Daboubi Rym, Siala Hajer, Ouali Faida, Becher Meriam, Toumi Nourelhouda, Bibi Amina, Messsaoud Taieb

机构信息

.

出版信息

Clin Chem Lab Med. 2017 Jul 26;55(8):1193-1201. doi: 10.1515/cclm-2016-0253.

DOI:10.1515/cclm-2016-0253
PMID:28099116
Abstract

BACKGROUND

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the assessment. In this respect, we attempted in this study to set cut-off values of G6PD activity to discriminate among normal, heterozygous, and deficient individuals using the World Health Organization (WHO) classification and the receiver operating characteristics (ROC) curve analysis.

METHODS

Blood samples from 250 female and 302 male subjects were enrolled in this study. The G6PD activity was determined using a quantitative assay. The common G6PD mutations in Tunisia were determined using the amplification refractory mutation system (ARMS-PCR) method. The ROC curve was used to choice the best cut-off.

RESULTS

Normal G6PD values were 7.69±2.37, 7.86±2.39, and 7.51±2.35 U/g Hb for the entire, male, and female groups, respectively. Cut-off values for the total, male, and female were determined using the WHO classification and ROC curves analysis. In the male population, both cut-offs established using ROC curve analysis (4.00 U/g Hb) and the 60% level (3.82 U/g Hb), respectively are sensitive and specific resulting in a good efficiency of discrimination between deficient and normal males. For the female group the ROC cut-off (5.84 U/g Hb) seems better than the 60% level cut-off (3.88 U/g Hb) to discriminate between normal and heterozygote or homozygote women with higher Youden Index.

CONCLUSIONS

The establishment of the normal values for a population is important for a better evaluation of the assay result. The ROC curve analysis is an alternative method to determine the status of patients since it correlates DNA analysis and G6PD activity.

摘要

背景

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是全球最常见的酶病。发病率主要取决于所采用的评估方法。在这方面,我们在本研究中尝试设定G6PD活性的临界值,以使用世界卫生组织(WHO)分类和受试者工作特征(ROC)曲线分析来区分正常、杂合子和缺乏症个体。

方法

本研究纳入了250名女性和302名男性受试者的血样。使用定量测定法测定G6PD活性。采用扩增阻滞突变系统(ARMS-PCR)法测定突尼斯常见的G6PD突变。使用ROC曲线选择最佳临界值。

结果

整个组、男性组和女性组的正常G6PD值分别为7.69±2.37、7.86±2.39和7.51±2.35 U/g Hb。使用WHO分类和ROC曲线分析确定了总人群、男性和女性的临界值。在男性人群中,分别使用ROC曲线分析确定的临界值(4.00 U/g Hb)和60%水平(3.82 U/g Hb)既敏感又特异,从而在区分缺乏症和正常男性方面具有良好的鉴别效率。对于女性组,ROC临界值(5.84 U/g Hb)在区分正常与杂合子或纯合子女性方面似乎优于60%水平临界值(3.88 U/g Hb),且约登指数更高。

结论

确定人群的正常值对于更好地评估检测结果很重要。ROC曲线分析是确定患者状态的一种替代方法,因为它将DNA分析与G6PD活性相关联。

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