Pereira Lucas Luís Meigre Dias, Bravin Cristina Augusta, Cintra Terezinha Sarquis, Cassa Wélida Santos Portela, Santos Thainá Altoé, Fonseca Armando, Pratte-Santos Rodrigo
Faculdade PIO XII , Cariacica , ES , Brazil .
Associação de Pais e Amigos dos Excepcionais , Vitória , ES , Brazil .
Einstein (Sao Paulo). 2019 Jan 21;17(1):eAO4436. doi: 10.31744/einstein_journal/2019AO4436.
To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays.
A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients identified as deficient were submitted to molecular analysis quantitative real-time polymerase chain reaction - (qPCR) to investigate the presence of variants associated with the deficiency.
The total prevalence of G6PD deficient was 2.5%. Of the 25 samples identified as deficient, 21 were submitted to qPCR assay to analyze the presence of G202A, A376G and C563T variants. All samples showed the G202A/A376G genotype, characterizing G6PD A- phenotype.
The prevalence of G6PD deficiency in the present study was similar to that observed in other study populations in Brazil. Molecular analysis identified in all patients the presence of the genetic polymorphism G202A/A376G, more common in the Brazilian population with G6PD deficiency, which is directly estimated by enzyme activity level.
通过分子检测方法评估新生儿中葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的患病率，并对G202A、A376G和C563T多态性进行特征分析。
通过酶活性定量分析对总共1000份样本进行检测，检测出25例G6PD缺乏个体。将鉴定为缺乏的患者进行分子分析——定量实时聚合酶链反应（qPCR），以研究与该缺乏相关的变异体的存在情况。
G6PD缺乏症的总患病率为2.5%。在鉴定为缺乏的25份样本中，21份进行了qPCR检测，以分析G202A、A376G和C563T变异体的存在情况。所有样本均显示G202A/A376G基因型，为G6PD A-表型。
本研究中G6PD缺乏症的患病率与巴西其他研究人群中观察到的患病率相似。分子分析在所有患者中均鉴定出遗传多态性G202A/A376G的存在，该多态性在巴西G6PD缺乏症人群中更为常见，可通过酶活性水平直接评估。
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