新生儿不明原因高胆红素血症与SLCO1B1基因多态性的相关分析  

Association analysis of the SLCO1B1 polymorphism and unexplained neonatal hyperbilirubinemia

作　　者：林美丽[1] 陈伟[1] 范希景 胡益飞 王花艳[2] 单小云[1] LIN Mei-li;CHEN Wei;FAN Xi-jing;HU Yi-fei;WANG Hua-yan;SHAN Xiao-yun(Clinical Laboratory,Jinhua Central Hospital,Jinhua,Zhejiang 321000,China)

机构地区：[1]浙江省金华市中心医院检验科,浙江金华321000 [2]浙江省金华市中心医院儿科,浙江金华321000

出　　处：《中国卫生检验杂志》2020年第3期323-326,共4页Chinese Journal of Health Laboratory Technology

摘　　要：目的探讨SLCO1B1基因多态性与新生儿不明原因高胆红素血症发病风险的关系。方法收集金华地区新生儿不明原因高胆红素血症患儿66例为疾病组,同时选取健康新生儿42例作为对照组。提取外周血DNA,采用PCR和Sanger测序法对基因多态性的情况进行分析。观察基因变异频率及基因型分布、基因多态性与新生儿不明原因高胆红素血症的相关性及对患儿血清胆红素水平的影响。结果金华地区新生儿SLCO1B1基因c.388A>G、c.521T>C、c.571T>C和c.597C>T的变异率分别为93.5%、25.9%、37.0%和63.9%,这些位点在疾病组和对照组中分布差异无统计学意义(P>0.05)。在c.388A>G、c.571T>C和c.597C>T 3个位点的不同基因型中,疾病组患儿总胆红素、未结合胆红素、结合胆红素水平比较,差异均无统计学意义(P>0.05);c.521T>C位点纯合变异型血清总胆红素水平与杂合变异型比较,差异有统计学意义(P<0.05)。结论SLCO1B1基因的4个SNPs位点与金华地区新生儿不明原因高胆红素血症的发病风险没有显著相关性,但c.521T>C位点纯合变异型可能对血清总胆红素水平有一定的影响。Objective To determine the association between the variations of SLCO1B1 gene and unexplained neonatal hyperbilirubinemia in Jinhua area.Methods A total of 66 infants with unexplained hyperbilirubinemia in Jinhua area were collected as the case group,and 42 healthy newborns were selected as the control group.DNA was extracted from peripheral blood,and gene polymorphism was analyzed by PCR and Sanger sequencing.To observe the correlation between gene mutation frequency and genotype distribution,gene polymorphism and unexplained neonatal hyperbilirubinemia,and the effect on serum bilirubin levels in children.Results The mutation rates of SLCO1B1 genes(c.388 A>G,c.521 T>C,c.571 T>C,and c.597 C>T)in Jinhua area were respectively 93.5%,25.9%,37.0%,and 63.9%.There was no statistical significance on the difference between the case group and the control group(P>0.05).In the different genotypes of c.388 A>G,c.571 T>C and c.597 C>T,compared with the level of bound bilirubin,the differences of total bilirubin and unbound bilirubin of the case group were not statistically significant(P>0.05);the total bilirubin level of c.521 T>C locus was significantly different from that of heterozygous variants,with the differences statistically significant(P<0.05).Conclusion There is no association between the 4 SNPs of the SLCO1B1 and local unexplained neonatal hyperbilirubinemia in Jinhua.However,the homozygous mutant of c.521 T>C may have a certain effect on serum total bilirubin level.

关 键 词：SLCO1B1基因 不明原因高胆红素血症 多态性 变异 单核苷酸 

分 类 号：R722.1[医药卫生—儿科]