目的 探讨尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因编码序列(Gly71Arg)的突变及启动序列(非编码序列即TATA)核苷酸的多态性与昆明地区重症新生儿黄疸的遗传关联性研究.方法 187例重症新生儿黄疸作为病例组,65例无黄疸新生儿作为对照组.采用常规方法提取DNA,用聚合酶链反应(PCR)方法扩增UGT1A1第1外显子,琼脂糖凝胶电泳鉴定产物,PCR产物进行DNA测序.结果 病例组与对照组Gly71Arg等位基因突变率分别为32％及15％,病例组Gly71Arg基因频率显著高于对照组,差异有统计学意义(x 2=11.366,P=0.001,P＜ 0.05)；病例组与对照组TATA等位基因突变率分别为9％及7％,等位基因频率在病例组及对照组间无统计学差异(x 2=2.336,P=0.126,P＞ 0.05).结论 昆明地区重症新生儿黄疸的发生与Gly71Arg突变密切相关,而与TATA的多态性无关.%Objective To investigate the heredity relevance of UGT1A1 gene mutation in exon (Gly71Arg) and priming (TATA) to the neonatal severe jaundice in Kunming. Methods 187 severe jaundice neonates were selected into the case group, and 65 neonates without jaundice were selected into the control group. The DNA of blood samples was extracted, and PCR was used for amplification of the first exon of UGT1A1, and the PCR products were identified by agarose gel electrophoresis and DNA sequencing. Results The allele gene frequency of G71R in the case group and the control group was 32% and 15% , respectively, the allele gene frequency of G71R in the case group was significantly higher than the control group, the difference had statistical significance ( χ2=11-366, P = 0.001, P < 0.05). The allele gene frequency of TATA in the case group and the control group was 9% and 7% , respectively, and there was no statistical difference between two groups ( χ2 = 2.336, P = 0.126, P>0.05). Conclusion Severe neonatal jaundice is closely correlated with Gly71Arg mutation, and independent of TATA mutation in Kunming.
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