Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

被引：14

作者：

Mazur-Kominek, Katarzyna ^{[1
,2
]}

Romanowski, Tomasz ^{[1
,2
]}

Bielawski, Krzysztof ^{[1
,2
]}

Kielbratowska, Bogumila ^{[3
]}

Preis, Krzysztof ^{[3
]}

Domzalska-Popadiuk, Iwona ^{[4
]}

Slominska-Fraczek, Magdalena ^{[5
]}

Sznurkowska, Katarzyna ^{[5
]}

Renke, Joanna ^{[6
]}

Plata-Nazar, Katarzyna ^{[5
]}

Sledzinska, Karolina ^{[5
]}

Sikorska-Wisniewska, Grazyna ^{[5
]}

Gora-Gebka, Magdalena ^{[5
]}

Liberek, Anna ^{[7
]}

机构：

[1] Univ Gdansk, Intercollegiate Fac Biotechnol, Dept Biotechnol, Gdansk, Poland

[2] Med Univ Gdansk, Gdansk, Poland

[3] Med Univ Gdansk, Dept Obstet, Gdansk, Poland

[4] Med Univ Gdansk, Dept Neonatol, Gdansk, Poland

[5] Med Univ Gdansk, Dept Pediat Pediat Gastroenterol Hepatol & Nutr, Gdansk, Poland

[6] Univ Gdansk, Dept Gen & Med Biochem, Gdansk, Poland

[7] Med Univ Gdansk, Fac Hlth Sci, Subfac Nursing, Gdansk, Poland

来源：

ACTA BIOCHIMICA POLONICA | 2017年 / 64卷 / 02期

关键词：

UGT1A1; gene; polymorphism; hyperbilirubinemia; neonates; GILBERTS-SYNDROME; GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY; BILIRUBIN; JAUNDICE; UDP-GLUCURONOSYLTRANSFERASE-1; PROMOTER; DEFECTS; NEWBORN;

D O I：

10.18388/abp.2016_1450

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Objective: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. Study design: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe T. Result: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA) 7/(TA) 7) homozygotes. More than 80%(55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA) 6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. Conclusion: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.

引用

页码：351 / 356

页数：6

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