Min Jiang, Jie Luo, Caiyun Yang, Ying Lin, Xuefang Yang
Neonatal Center, Beijing Children's Hospital, Capital University of Medical Sciences, 56# Nanlishi Road, Beijing, China.
Indian J Pediatr. 2016 Jul;83(7):723-5. doi: 10.1007/s12098-016-2064-8. Epub 2016 Mar 10.
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.
本研究评估了中国北方新生儿中UGT1A1、OATP2基因突变与高胆红素血症的相关性。在UGT1A1的211位点（Gly71Arg）和OATP2的388位点（Asn130Asp）分析基因突变。根据美国儿科学会指南，将纳入的226例婴儿分为高、中、低风险亚组。采集纳入婴儿的血样用于聚合酶链反应-限制性片段长度多态性分析。比较每组中多态性的基因型和等位基因频率。UGT1A1和OATP2基因突变在高风险组和中风险组中的发生频率均高于低风险组。结果表明，UGT1A1和OATP2基因中的Gly71Arg和Asn130Asp突变可能与新生儿高胆红素血症的发生有关。
