【摘要】 目的　了解广西柳州地区葡萄糖 6磷酸脱氢酶 (G 6PD)缺陷症的基因突变类型。探讨G 6PD缺陷基因突变与新生儿疸的关系。方法　采用基因芯片技术 ,对 4 4例广西柳州地区籍因新生儿黄疸住院的G 6PD缺陷儿进行检测 ,并对其临床表现进行分析。结果　 4 4例 (5 1条X染色体 )患儿中检出G1388A 2 0例 (2 2 / 5 1,基因发生频率 4 3 1% ) ,G1376T 9例 (11/ 5 1,2 1 6 % ) ,A95G 6例 (8/ 5 1,15 7% ) ,G392T 5例 (6 / 5 1,11 8% ) ,C10 2 4T 1例 (1/ 5 1,2 0 % ) ,未定型 3例。G1388A基因型患儿黄疸持续时间与G392T基因型比较差异有显著性(P <0 0 1) ;G1388A基因型的血红蛋白分别与G1376A、A95G的血红蛋白比较差异有显著性 (均P <0 0 5 ) ;各基因型患儿黄疸出现时间、血总胆红素值及间接胆红素值比较差异均无显著性 (P >0 0 5 )。结论　G1388A、G1376T、A95G突变型是广西柳州地区最常见的G 6PD突变型。G1388A基因型患儿黄疸持续时间较长、黄疸程度及贫血程度比较重 ;1388位的突变可能与重型新生儿黄疸相关。更多还原

【Abstract】 Objective To investigate the mutations of glucose-6-phosphate dehydrogenase deficiency(G-6PD) in the area of Liuzhou,Guangxi,China and study the relationship between the mutations and neonatal jaundice.Methods The mutant types of G-6PD in 44 cases of neonatal jaundice were detected by DNA microchips and compared with their clinical manifestation.Results Five mutant types of G-6PD were found,namely 20 cases (43.1%) G1388A,9 cases(21.6%) G1376T ,6 cases(15.7%) A95G,5 cases(11.8%) G392T,1 case(1.9%) C1024T.The duration of jaundice in the cases with G1388A was longer than that of the cases with G392T(P<0.01).The concentration of hemoglobin was lower in the cases with G1388A than that of the cases with G1376A and A95G(P<0.05).There was no difference in the appearance of jaundice,concentration of serous total and indirect bilirubin among the 44 cases(P>0.05).Conclusion The most common mutant types of G-6PD are G1388A,G1376T and A95G in the area of Liuzhou,Guangxi,China.The clinical manifestations are more serious in the cases with G 1388A than in those with other mutations.更多还原