- Tytuł:
- Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia
- Autorzy:
-
Mazur-Kominek, Katarzyna
Romanowski, Tomasz
Bielawski, Krzysztof
Kiełbratowska, Bogumiła
Preis, Krzysztof
Domżalska-Popadiuk, Iwona
Słomińska-Frączek, Magdalena
Sznurkowska, Katarzyna
Renke, Joanna
Plata-Nazar, Katarzyna
Śledzińska, Karolina
Sikorska-Wiśniewska, Grażyna
Góra-Gębka, Magdalena
Liberek, Anna - Powiązania:
- https://bibliotekanauki.pl/articles/1038662.pdf
- Data publikacji:
- 2017
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
UGT1A1 gene
polymorphism
hyperbilirubinemia
neonates - Opis:
- 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™. 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.
- Źródło:
-
Acta Biochimica Polonica; 2017, 64, 2; 351-356
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł