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Gene Mutation in Neonatal Jaundice - Mutations in UGT1A1 and OATP2 Genes

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收录情况： ◇ SCIE

作者：

机构： [1]Capital Univ Med Sci, Beijing Childrens Hosp, Neonatal Ctr, 56 Nanlishi Rd, Beijing, Peoples R China

出处：

DOI：

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关键词： Genetic mutation Hyperbilirubinemia Newborn UGT1A1 OATP2

摘要：

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.

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PubmedID：

中科院(CAS)分区：

出版当年[2015]版：

大类 | 4 区医学

小类 | 4 区儿科

最新[2025]版：

大类 | 4 区医学

小类 | 4 区儿科

JCR分区：

出版当年[2014]版：

Q4 PEDIATRICS

最新[2023]版：

Q2 PEDIATRICS

影响因子： 2.1 最新[2023版] 2.8 最新五年平均 0.867 出版当年[2014版] 0.812 出版当年五年平均 0.919 出版前一年[2013版] 0.808 出版后一年[2015版]

第一作者：

第一作者机构： [1]Capital Univ Med Sci, Beijing Childrens Hosp, Neonatal Ctr, 56 Nanlishi Rd, Beijing, Peoples R China

通讯作者：

通讯机构： [1]Capital Univ Med Sci, Beijing Childrens Hosp, Neonatal Ctr, 56 Nanlishi Rd, Beijing, Peoples R China

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