OBJECTIVE To investigate the possible role of the UGT1A1 G71R or the OATP2 A388G genes mutation with coexisting G-6-PD deficiency in occurrence of neonatal hyperbilirubinemia. METHODS Totally 109 umbilical cord blood samples were collected for the screening of G-6-PD activity by nitroblue tetrazolium (NBT) test and identification of G71R gene type by polymerase chain reaction combined with allele-specific oligonucleotide assay (ASO-PCR). At the same time, for 101 of the 109 cord blood samples A388G gene types were tested by restriction fragment length polymorphism (RFLP). According to G-6-PD activity and G71R or A388G genotype, the neonates were allocated into different groups. The authors compared the incidence rate of hyperbilirubinemia among different groups. Ten samples were sequenced to validate the results. RESULTS Among the 109 umbilical cord blood specimens, the allele frequency of G71R was 22.03% in G-6-PD deficient group, 28.0% in G-6-PD normal group. The incidence rate of neonatal hyperbilirubinemia for those neonates who were G-6-PD deficient with coexisting homozygous or heterozygous variant of the G71R gene was significantly higher than that of neonates who were G-6-PD normal and had wild type G71R gene type, chi(2) = 10.45, P = 0.0012. The odds ratio (OR) of the former was 18.00 (95% CI: 2.12, 152.9). Among the 101 neonates, the allele frequency of A388G was 20.0% in G-6-PD deficient group and 18.5% in G-6-PD normal group. The incidence rate of neonatal hyperbilirubinemia for those neonates who were G-6-PD deficient with coexisting homozygous or heterozygous variant of the A388G gene was significantly higher than that of the neonates who were G-6-PD normal and had wild type A388G gene type, chi(2) = 10.39, P = 0.0013. The OR of the former was 11.8 (95% CI: 2.15, 56.48). CONCLUSION G-6-PD deficiency coexists with G71R or A388G mutation in some individuals in Guangxi region. UGT1A1 G71R gene mutation combined with G-6-PD deficiency or A388G gene mutation combined with G-6-PD deficiency may play a coordinative role in the development of neonatal hyperbilirubinemia.

在我国南方 ,葡萄糖 6 磷酸脱氢酶 （G 6 PD）缺乏是新生儿高胆红素血症的主要病因。新生儿G 6 PD缺乏的最大危害为可引起高胆红素血症与核黄疸。G 6 PD缺乏所致新生儿高胆红素血症的发病机制是多因素共同作用的结果 ,既往强调溶血是其发病的主因 ,目前认为胆红素结合能力不足也参与发病。UGT1A1基因突变导致胆红素结合障碍是 2 1世纪的研究热点。不少学者提出UGT1A1基因突变与G 6 PD缺乏二者对高胆红素血症起协同作用。

早产儿免疫系统发育不成熟,初乳中含有许多免疫活性物质,目前有关早产儿母乳中T细胞亚群、B细胞的检测罕见报告.本实验对早产儿、足月儿母亲初乳中B细胞、T细胞亚群进行了检测,进一步探讨人初乳中免疫活性细胞对早产儿的免疫保护作用.

先天性心脏病是儿童时期常见的心 脏疾病,以左向右分流型多见,是由于胚 胎期心血管发育畸形所致.主要的并发 症是反复呼吸道感染,且直接影响着本病 预后.本文就86例先天性心脏病左向右 分流型患儿与呼吸道感染的关系进行了 多因素分析,现报告如下. 1资料和方法

目的 探讨早产母初乳免疫物质的含量,为早产儿早期母乳喂养提供理论依据.方法 用流式细胞仪直接和间接免疫荧光标记法测定早产母初乳中表达CD3、CD4、CD8、CD19分化群的细胞比例,用双抗体夹心酶联免疫吸附法(ELISA)测定初乳中肿瘤坏死因子-α(TNF-α)的含量,并与正常足月初乳组对比分析.结果 早产母初乳中T3、T4、T8淋巴细胞比例及T4/T8比值稍低于足月组,B淋巴细胞比例稍高于足月组,但上述结果两组间差异均无显著性(P＞0.05).早产母初乳中TNF-α的含量高于足月组,其中位数分别为376.96 g/ml,111.38 pg/ml,二者间差异有显著性(P＜0.05).结论 早产母初乳中含有丰富的免疫活性物质,对早产儿更应提倡母乳喂养、早哺母乳.