title: Gene Mutation in Neonatal Jaundice - Mutations in UGT1A1 and OATP2 Genes.
abstract: This study evaluated the correlation of UGT1A1, OATP2 gene mutations and hyperbilirubinemia in newborns in Northern China. Gene mutations were analyzed at the 211 locus of UGT1A1 (Gly71Arg) and 388 locus of OATP2 (Asn130Asp). The 226 enrolled infants were divided into high, moderate, and low risk subgroups according to American Academy of Pediatrics guideline. Blood samples of the enrolled infants were collected for the analysis of the PCR-restriction fragment length polymorphism. The genotypes and allele frequencies of the polymorphisms were compared in each group. Both UGT1A1 and OATP2 gene mutations occur more often in high risk group and moderate risk group than in low risk group. The results suggested that Gly71Arg and Asn130Asp mutations in UGT1A1 and OATP2 genes might be involved in the development of hyperbilirubinemia in neonates.
authors.affiliation: Neonatal Center, Beijing Children's Hospital, Capital University of Medical Sciences, 56# Nanlishi Road, Beijing, China. jiangmin7496@sina.com.
authors.forename: Jiang
authors.initials: J
authors.lastname: Min
authors.affiliation: Neonatal Center, Beijing Children's Hospital, Capital University of Medical Sciences, 56# Nanlishi Road, Beijing, China.
authors.forename: Luo
authors.initials: L
authors.lastname: Jie
authors.affiliation: Neonatal Center, Beijing Children's Hospital, Capital University of Medical Sciences, 56# Nanlishi Road, Beijing, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Caiyun
authors.affiliation: Neonatal Center, Beijing Children's Hospital, Capital University of Medical Sciences, 56# Nanlishi Road, Beijing, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Ying
authors.affiliation: Neonatal Center, Beijing Children's Hospital, Capital University of Medical Sciences, 56# Nanlishi Road, Beijing, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Xuefang
mesh_terms: D002648:Child; D002681:China; D005260:Female; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia; D051556:Hyperbilirubinemia, Neonatal; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000235:genetics*; D027381:Liver-Specific Organic Anion Transporter 1 / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D027381:Liver-Specific Organic Anion Transporter 1; C503999:SLCO1B1 protein, human; D014453:Glucuronosyltransferase; C577641:UGT2A1 protein, human
keywords: Genetic mutation; Hyperbilirubinemia; Newborn; OATP2; UGT1A1