湖南长沙地区G6PD基因突变与新生儿黄疸关系的研究

【目的】了解湖南长沙地区葡萄糖 6 磷酸脱氢酶(G6PD)缺乏症的基因突变类型。探讨 G6PD缺乏症基因突变与新生儿黃疸的关系。【方法】采用突变特异性扩增系统对65例湖南长沙地区G6PD缺乏症的新生儿进行基因突变检测,并对其临床表现进行分析。【结果】65 例 G6PD缺乏症的新生儿中检出 G1388A16例(24.6%), G1376T 33 例(50.8%), A95G 13 例(20%),未定型 3 例(4.6%)。G1388A的血红蛋白与G1376T的血红蛋白比较差异有显著性(P<0.05);各基因型患儿黃疸出现时间、血总胆红素值及间接胆红素值比较差异均无显著性(P>0.05)。【结论】G1388A、G1376T、A95G基因突变型是湖南长沙地区最常见的G6PD基因突变型,且均可引起新生儿黃疸,引起新生儿黃疸临床表现的严重程度从重至轻的次序为G1376T、A95G、G1388A。

Relationship Between Genetic Mutations of Glucose-6-phosphate Dehydrogenase Deficiency and Neonatal Jaundice in Changsha City of Hunan Province

To investigate the types of genetic mutations in neonates with glucose-6-phosphate dehydrogenase (G6PD) deficiency and to explore the relationship between G6PD genetic mutations and neonatal jaundice.Sixty-five neonates with G6PD in Changsha city of Hunan province were enrolled in the study. Their clinical manifestations were analyzed and genetic mutations were detected by amplification of specific mutation system.Sixteen (24.6 %) patients' mutation type was G1388A16, 33 (50.8 %) were G1376T, 13 (20.0%) were A95G, and 3 (4.6 %) were undetermined. There was significant difference in hemoglobin contents between patients with G1388A and patients with G1376T(P<0.05), while there were no significant differences in onset time of jaundice, serum concentrations of total bilirubin and indirect bilirubin among patients with various types of mutations(P>0.05).[Conclusion]G1388A, G13766T and A95G were main types of G6PD genetic mutations in Changsha city of Hunan province. All of these mutations can cause neonatal jaundice. G1376T can cause the most serious jaundice, and then do A95G and G1388 in turn.