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Correlation between UGT1A1 polymorphism and neonatal hyperbilirubinemia of neonates in Wuhan

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单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Pediat, Tongji Med Coll, Wuhan 430030, Hubei, Peoples R China
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关键词: neonates gene polymorphism uridine diphosphate glucuronosyltransferase jaundice UGT1A1*28 Gly71Arg

摘要:
This study attempts to discuss the correlation between UGT1A1*28 as uridine diphosphate glucuronosyltransferase gene promoter and coding region Gly71Arg gene polymorphism with neonatal hyperbilirubinemia of neonates in Wuhan. A total of 168 neonates were divided into the hyperbilirubinemia group (case group, n=108) and healthy neonates group (control group, n=60). Their DNA was obtained through blood extraction. The gene exon mutation of UGT1A1 was detected by Sanger sequencing, which revealed the relationship between UGT1A1*28 and Gly71Arg polymorphism with neonatal hyperbilirubinemia of neonates. The results showed that: (1) The frequency of UGT1A1*28 allele mutation in the case group and the control group was 9.3% and 10% respectively, with the difference being not significant between the two groups (P > 0.05). (2) The frequency of Gly71Arg allele mutation in the case group and the control group was 35.1% and 21.7% respectively, with the difference being significant between the two groups (P < 0.01). (3) The serum bilirubin level of Gly71Arg mutant homozygous and heterozygous subgroups (n=66) in the case group was 302.7 +/- 31.4 mu mol/L, which was significantly higher than 267.3 +/- 28.5 mu mol/L of the wild subgroup (n=42) (P < 0.01). It was suggested that the occurrence of neonatal hyperbilirubinemia of neonates in Wuhan was not associated with UGT1A1*28 gene polymorphism, but closely with the Gly71Arg gene polymorphism. Meanwhile, the Arg allele mutation was related to the degree of jaundice.

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出版当年[2016]版:
大类 | 4 区 医学
小类 | 4 区 生化与分子生物学
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Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
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第一作者单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Pediat, Tongji Med Coll, Wuhan 430030, Hubei, Peoples R China
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