临床儿科杂志 ›› 2018, Vol. 36 ›› Issue (9): 649-.doi: 10.3969/j.issn.1000-3606.2018.09.001

• 围产新生儿疾病专栏 •    下一篇

SLCO1B1 基因多态性与新生儿高胆红素血症的相关性

蒋榆辉 1, 刘玲 2, 奚敏 2, 张凤权 1   

  1. 1.云南省第二人民医院儿科(云南昆明 650021);2.昆明市儿童医院(云南昆明 650221)
  • 收稿日期:2018-09-15 出版日期:2018-09-15 发布日期:2018-09-15
  • 通讯作者: 刘玲 E-mail:ynll2012@163.com
  • 基金资助:
    云南省卫生计生委项目(No. 2014NS056)

Association between SLCO1B1 gene polymorphism and neonatal hyperbilirubinemia

JIANG Yuhui1, LIU Ling2, XI Ming2, ZHANG Fengquan1   

  1. 1.The Second People’s Hospital of Yunnan, Kunming 650021, Yunnan, China; 2.Kunming Children’s Hospital, Kunming 650221, Yunnan, China
  • Received:2018-09-15 Online:2018-09-15 Published:2018-09-15

摘要: 目的 观察有机阴离子转运多肽(OATP1B1)编码基因SLCO1B1的单核苷酸多态性与新生儿高胆红素血 症的相关性。方法 随机选取2014年9月至2016年9月住院的高胆红素血症新生儿300例为病例组,同时随机选取相匹 配的无高胆红素血症新生儿300例为对照组。提取基因组DNA,采用Sequenom特定SNP位点分型检测SLCO1B1位点 rs59502379、rs56101265、rs72559748、rs72559745、rs56061388、rs55901008、rs4149056、rs56199088,分析病例组与对照 组的差异。结果 SLCO1B1位点rs59502379、rs56101265、rs72559745、rs56061388、rs55901008和rs56199088位点未检 出多态性;rs4149056位点的等位基因突变频率病例组为12%、对照组为11%,差异无统计学意义(P>0.05);rs72559748 位点的等位基因突变频率病例组为2.5%,低于对照组的5.2%,提示该位点突变与新生儿高胆红素血症无关。结论  OATP1B1编码基因SLCO1B1位点rs59502379、rs56101265、rs72559745、rs56061388、rs55901008、rs56199088未检出多态性, 而SLCO1B1位点rs4149056及rs72559748位点检出多态性,但以上位点均与新生儿高胆红素血症发生无关。

Abstract:  Objective To explore the correlation between single nucleotide polymorphisms of SLCO1B1 (encoding gene of organic anion transporting polypeptide 1B1, OATP1B1) and neonatal hyperbilirubinemia. Method A total of 300 cases of neonatal hyperbilirubinemia were randomly selected as case group from September 2014 to September 2016, and 300 cases of matched neonates without hyperbilirubinemia were randomly selected as the control group. Genomic DNA was extracted and Sequenom specific SNP loci were used to detect gene polymorphisms of SLCO1B1 rs59502379, rs56101265, rs72559748, rs72559745, rs56061388, rs55901008, rs4149056 and rs56199088, and the difference between the two groups was analyzed. Results Gene polymorphisms of SLCO1B1 rs59502379, rs56101265, rs72559745, rs56061388, rs55901008 and rs56199088 were not found. The allele gene frequency of SLCO1B1 rs4149056 was 12% in case group and 11% in control group and there was no significant difference between two groups (P>0.05). The allele gene frequency of SLCO1B1 rs72559748 in case group was 2.5%, lower than that of control group (5.2%). It was suggested that the mutation of SLCO1B1 rs72559748 was not associated with neonatal hyperbilirubinemia. Conclusions No polymorphism was detected at the sites rs59502379, rs56101265, rs72559745, rs56061388, rs55901008 and rs56199088 of the OATP1B1 coding gene SLCO1B1. Polymorphism of SLCO1B1 rs4149056 and rs72559748 was found and it was not associated with neonatal hyperbilirubinemia.