UGT1A1基因Gly71Arg突变对新生儿高胆红素血症的影响-儿科学专业论文.docxVIP

I I 摘 要 【目的】 探讨尿苷二磷酸葡萄糖醛酸转移酶 1A1 (UGT1A1)基因 Gly71Arg 突变与新生 儿高胆红素血症的相关性。 【方法】 选取 2009 年 6 月至 2011 年 3 月期间在深圳市第五人民医院出生的 325 例足 月新生儿，包括 168 例高胆红素血症新生儿和 157 例对照组新生儿。用其外周血 提取 DNA，采用突变特异性扩增系统法检测 UGT1A1 基因 Gly71Arg 突变，并 在 2%琼脂糖凝胶电泳验证结果，分析比较高胆红素血症组和对照组等位基因的 频率，旨在了解 Gly71Arg 突变与新生儿高胆红素血症发病的关系。 【结果】 高胆红素血症组和对照组相比，两组间的男女比例、出生体重、胎龄差别无 统计学意义(P﹥0.05)。高胆红素血症组中UGT1A1基因 Gly71Arg突变A/G型、 A/A型及A/A+A/G型的分布频率均高于对照组中相应的分布频率(P0.05),携带 A/A+A/G型的新生儿发生高胆红素血症的危险性是G/G型的2.71倍（OR=2.71， 95%Cl 1.68-4.38）。A等位基因在高胆红素血症组中的分布频率(27.4%)亦高于对 照组(12.4%)，两者差别有统计学意义(P0.05)，携带A等位基因可增加新生儿高 胆红素血症的发病风险(OR=2.66，95%CI 1.76-4.02)。 【结论】 UGT1A1 基因 Gly71Arg 突变与我国新生儿高胆红素血症的发病相关， UGT1A1 Gly71Arg 突变 A/G 型及 A/A 型是我国新生儿高胆红素血症的易感基 因，A 等位基因是我国新生儿高胆红素血症发生的危险因素。 【关键词】 新生儿；高胆红素血症；尿苷二磷酸葡萄糖醛酸转移酶 1A1；基因突变 II II ABSTRACT Objectives In this study，we investigate the association between the Gly71Arg mutation in UDP-glucuronosyltransferase 1A1 gene (UGT1A1) and neonatal hyperbilirubinemia. Methods We enrolled 325 infants from June 2009 to April 2011 in the Fifth People’s Hospital of Shenzhen. They included 168 hyperbilirubinemic infants and 157 control subjects. DNA was extracted from peripheral blood by standard methods. Amplification refractory mutation system was used to detect the UGT1A1 Gly71Arg mutation. The PCR product was analyzed on a 2% agarose gel. Compare the genotypic distribution of the Gly71Arg mutation, to determine whether the Gly71Arg mutation contributes to the development of neonatal hyperbilirubinemia. Results There was no statistically significant difference between the hyperbilirubinemic group and the control group regarding the mean gestational age, the birth weight and gender(P﹥0.05). Compare the two groups, the prevalence of A/G、A/A and A/A+A/G genotype of Gly71Arg in hyperbilirubinemic group were significantly higher than what in control group. The result revealed that the Gly71Arg allele carriers (A/A+G/A) were associated with an increased risk of neonatal hyperbilirubinemia when compared with the G/G all