CAJ | 학술논문

目的探讨有机阴离子转运因子2(OATP2)的 A388G 及 T521C 基因多态性与云南省新生儿高胆红素血症的相关性.方法180例新生儿重症高胆红素血症作为病例组,80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,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 A388G 等位基因突变率分别为25%及23%,病例组 A388G 基因频率与对照组间差异无统计学意义(χ2=1.056,P>0.05);病例组与对照组 T521C 基因等位基因突变率分别为9%及3%,病例组 T521C 基因频率显著高于对照组,差异有统计学意义(χ2=5.590,P<0.05).结论云南省重症新生儿高胆红素血症的发生与有机阴离子转运因子2 的A388G 基因突变无关,而与 T521C 基因的多态性密切相关.
목적탐토유궤음리자전운인자2(OATP2)적 A388G 급 T521C 기인다태성여운남성신생인고담홍소혈증적상관성.방법180례신생인중증고담홍소혈증작위병례조,80례무황달신생인작위대조조.채용상규방법제취 DNA,용취합매련반응(PCR)방법확증,경지당응효전영감정산물,PCR 산물진행 DNA 측서.결과병례조여대조조 A388G 등위기인돌변솔분별위25%급23%,병례조 A388G 기인빈솔여대조조간차이무통계학의의(χ2=1.056,P>0.05);병례조여대조조 T521C 기인등위기인돌변솔분별위9%급3%,병례조 T521C 기인빈솔현저고우대조조,차이유통계학의의(χ2=5.590,P<0.05).결론운남성중증신생인고담홍소혈증적발생여유궤음리자전운인자2 적A388G 기인돌변무관,이여 T521C 기인적다태성밀절상관.
Objective To investigate the relevance of OATP2 gene mutation in A388G and T521C to the severe hyperbilirubinemia in neonates in Yunnan. Methods The case group are 180 severe hyperbilirubinemia cases, the control group are 80 neonates without jaundice. Get out the DNA with routine;amplification gene with PCR;identify output with agarose gel electrophoresis; then sequencing. Results The case group and the control group allele gene frequency of A388G were 25%and23%, allele gene frequency in two group has not statistical difference(χ2=1.056, P>0.05). the case group and the control group allele gene frequency of T521C were 9% and 3%, the case group allele gene frequency of T521C was significantly higher than the control group, the difference has statistical significance(χ2=5.590, P< 0.05). Conclusions These results indicate that the severe hyperbilirubinemia in neonates is intimate correlate with T521C mutation, and independence with A388G mutation in Yunnan.