UGT1A1 TATA基因突变对母乳性黄疸发病的影响

Effect of UDP-glucoronosyl transferase transferase 1A1 gene TATA mutation on the development of breast-milk jaundice

【目的】探讨葡萄糖醛酸转移酶UGT1A1 TATA基因突变对母乳性黄疸发病的影响。【方法】收集病例共96例,分为母乳性黄疸组和对照组。用单链构象多态性分析(PCR-SSCP)检测TATA突变。通过全自动生化分析仪测定胆红素水平。【结果】56例母乳性黄疸婴儿中,TATA突变杂合子10例、野生型46例。等位基因频率为8.93%。40例对照婴儿中,TATA突变杂合子6例、野生型34例。等位基因频率为7.50%。等位基因频率在母乳性黄疸组及对照组间无统计学差异。χ2=0.12,P=0.72。存在TATA突变杂合子的新生儿发生母乳性黄疸的OR值为1.23,95%CI为(0.41,3.71),结果显示存在TATA基因突变杂合子的状态与母乳性黄疸的发病无关。【结论】UGT1A1 TATA基因突变对母乳性黄疸的发病无明显影响。

[Objective] To investigate whether TATA mutation of the uridine 5＇ -diposphate-glucuronosyl transferase 1A1 （UGT1A1） gene may play a role in the development of breast-milk jaundice. [Methods] A total of 96 infants were randomly divided into two groups： breast-milk jaundice group and control group. Blood samples had been collected for the identification of UGT1A1 TATA mutation by polymerase chain reaction combined with single strand conformation poly- morphism （PCR-SSCP） . The levels of blood bilirubin were determined by automatic biochemistry analyzer. [Results] Among 56 infants in the breast-milk jaundice group, 10 infants were genotype of TATA heterozygous variation and 46 infants were genotype of wide-type. The allele gene frequency of TATA was 8.93% in breast-milk jaundice group. Among 40 infants in the control group. 6 infants were TATA heterozygous variations and 34 infants were wide-type. The allele gene frequency of TATA was 7.50% in control group. No significant difference was found in the allele gene frequency of TATA between breast - milk jaundice group and control group, （X^2=0.12, P = 0.72） . The OR of the development of breast-milk jaundice among those infants who were heterozygous variant of the UGT1A1 TATA gene was 1.23 （95 % CI： 0.41, 3.71） . [ Conclusions] These results indicate that there is no obvious correlation between UGT1A1 TATA gene mutation and the onset of breast-milk jaundice.