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Polymorphic Variants of UGT1A1 in Neonatal Jaundice in Southern Brazil

机译:UGT1A1在巴西南部新生儿黄疸的多态性变异。

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Alterations in the hepatic conjugation of bilirubin due to uridyl-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) polymorphisms have been proposed as risk factors to neonatal jaundice. Herein, we estimated the frequency of genotypes of the promoter region of UGT1A1 gene in newborns and evaluated its association with severe hyperbilirubinemia. Prospective study of cases and controls including all newborns admitted for phototherapy at HCPA, Brazil, during 9 months; 490 babies were enrolled and PCR was performed. Polymorphic genotypes were detected in 16% of the patients and 7 of the 10 possible genotypes were identified with higher prevalence of polymorphisms in Afro-descendants. In this sample, the variants of UGT1A1 were not associated to severe hyperbilirubinemia; other genic factors should be sought in this high miscegenation area of Brazil.
机译:已提出由于尿苷二磷酸-葡萄糖醛酸转移酶1A1(UGT1A1)多态性引起的胆红素肝结合改变是新生儿黄疸的危险因素。在这里,我们估计了新生儿UGT1A1基因启动子区域的基因型频率,并评估了其与严重高胆红素血症的关系。对病例和对照进行前瞻性研究,包括在9个月内在巴西HCPA接受光疗的所有新生儿;招募了490名婴儿,并进行了PCR。在16%的患者中检测到多态性基因型,在10个可能的基因型中,有7种在非洲裔中被发现具有较高的多态性。在该样本中,UGT1A1的变体与严重的高胆红素血症无关。在巴西这个高度致突变的地区应寻找其他遗传因素。

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    《Journal of Tropical Pediatrics》 |2010年第5期|p.366-367|共2页
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