摘要
目的了解病毒性肝炎并葡萄糖-6磷-酸脱氢酶(G6PD)缺乏症患儿的基因突变类型,探讨G6PD缺乏基因突变与病毒性肝炎的关系。方法采用自然或错配引物介导的聚合酶链反应(PCR)限/制性内切酶分析,对病毒性肝炎并G6PD缺乏症18例患儿进行G6PD基因3种常见突变类型的分析,并对其临床表现进行分析。结果18例检测出8例G1388A突变,4例G1376T突变,1例A95G突变,突变率为72.22%,与单纯的G6PD缺乏症的基因突变型比较无显著差异。肝炎并G6PD缺乏症患儿急性溶血及急性肾衰竭的发生较单纯肝炎明显增加。结论肝炎患儿G6PD缺乏可能是原发性改变,而肝炎并G6PD缺乏症患儿较单纯肝炎病情重、并发症多。
Objective To study the glucose -6 - phosphate dehydrogenase （G6PD）genotypes in the children of viral hepatitis with G6PD deficiency and investigate the relationship between G6PD deficiency and viral hepatitis. Method DNA samples of 18 children with viral hepatitis / G6PD deficiency were studied for the 5 common mutations by using the natural primers or mismatched primers mediated PCR followed by restriction enzyme analysis and their clinical manifestation was analyzed. Results Among 18 cases ,8 cases were G1388A ,and 4 cases were G1376T,and 1 case was A95G. The 3 mutations of G1388A ,G1376T and A95G added up to 72.22%. There were no significant difference between the patients with viral hepatitis / G6PD deficiency and the children only with G6PD deficiency. The incidence rates of acute hemolysis and acute renal failure in the viral hepatitis/G6PD deficiency patients were higher than those in children with G6PD deficiency only. Conclusions It is supposed that the G6PD deficiency is primary in the patients of viral hepatitis with G6PD deficiency. The children of viral hepatitis with G6PD deficiency have more severe pathogenetic conditions and more complications than the children with G6PD deficiency only.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2007年第19期1459-1460,1474,共3页
Journal of Applied Clinical Pediatrics
