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目的 分析红细胞葡萄糖 6 磷酸脱氢酶 (G 6 PD)缺陷症新生儿的基因型 ,探讨基因突变型与临床表现之间可能的关系。 方法 应用特异性多聚酶链反应分析方法 ,分析 36例新生儿G 6 PD缺陷症的G1388A ,G1376T ,A95G基因突变型。 结果 在 36例G 6 PD缺陷症患儿中G1388A 2 3例 ( 6 4 % ) ,G1376T 13例 ( 36 % ) ,无A95G突变。前两种基因突变型所致的临床表现无明显差别 ,均引起新生儿急性溶血性贫血和黄疸。 结论 G1388A和G1376T为新生儿常见G 6 PD基因突变型 ,对黄疸高危新生儿 ,建议有条件的医院尽可能做G 6 PD缺陷症常规筛查
Objective To analyze the genotypes of neonates with erythrocyte glucose 6-phosphate dehydrogenase (G 6 PD) deficiency and to explore the possible relationship between gene mutation and clinical manifestations. Methods G1388A, G1376T and A95G gene mutations in 36 neonates with G 6 PD deficiency were analyzed by specific polymerase chain reaction (PCR). Results Of the 36 children with G 6 PD deficiency, 13 (36%) had G1388A 2 (34%) and G1376T (36%) without A95G mutation. The first two gene mutations caused by the clinical manifestations of no significant difference, all caused by neonatal acute hemolytic anemia and jaundice. Conclusion G1388A and G1376T are common mutations of G 6 PD gene in neonates. For newborns with high risk of jaundice, it is recommended that hospitals with conditional conditions routinely screen for G 6 PD deficiency