Association of UGT1A1 gene G71R polymorphism with neonatal hyperbilirubinemia
10.3760/cma.j.issn.1673-4912.2023.08.009
- VernacularTitle:UGT1A1基因G71R多态性与新生儿高胆红素血症的相关性研究
- Author:
Lu BAI
1
;
Chunzhi LIU
;
Chao MA
;
Hua MEI
;
Chunli LIU
;
Yuhong XU
;
La ZHAO
Author Information
1. 内蒙古医科大学附属医院新生儿科，呼和浩特 010050
- Keywords:
UGT1A1;
G71R;
Gene polymorphism;
Neonate;
Hyperbilirubinemia
- From:
Chinese Pediatric Emergency Medicine
2023;30(8):607-611
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the association between the G71R polymorphism of the UGT1A1 gene and neonatal hyperbilirubinemia. Methods:DNA was extracted from blood samples of 61 neonates with severe neonatal hyperbilirubinemia(severe neonatal hyperbilirubinemia group), 60 neonates with hyperbilirubinemia(hyperbilirubinemia group) and 62 healthy neonates(control group), the G71R mutation of UGT1A1 gene was analyzed by direct sequencing. Results:In severe neonatal hyperbilirubinemia group, there were 17 cases of homozygous mutation(A/A), 23 cases of heterozygous mutation(A/G) , and 21 cases of wild type(G/G) , with 28.87% homozygous mutation rate and 37.70% heterozygous mutation rate.In neonatal hyperbilirubinemia group, there were ten cases of homozygous mutation(A/A), 28 cases of heterozygous mutation(A/G) and 22 cases of wild type(G/G), with 16.67% homozygous mutation rate and 46.67% heterozygous mutation rate.In the control group, there were nine cases of homozygous mutation (A/A), 28 cases of heterozygous mutation(A/G) and 25 cases of wild type(G/G), among which the homozygous mutation rate was 14.52% and the heterozygous mutation rate was 45.16%.The genotype frequency( χ2=4.14, P=0.38)and allele frequency( χ2=2.47, P=0.29)of G71R in severe neonatal hyperbilirubinemia group, neonatal hyperbilirubinemia group and control group were not statistically significant. Conclusion:The G71R polymorphism of the UGT1A1 gene may not be significantly correlated with the prevalence of neonatal hyperbilirubinemia.
