摘要
目的了解九江地区新生儿黄疸患儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的基因突变类型。方法采用葡萄糖-6-磷酸脱氢酶(G6PD)/6-磷酸葡萄糖酸(6PGD)比值法检测G6PD酶活性和基因测序法检测G6PD基因突变为研究手段,对九江地区的病理性黄疸新生儿进行研究。结果 100例新生黄疸患儿中共检出基因突变19例,检出率为19%,其中G1388A突变10例、G1376T突变7例、A95G突变2例。G1388A组与G1376T组相比较,两组间差异无显著统计学意义(P>0.05);G1388A组与A95G组相比较,两组间差异有显著统计学意义(P<0.05);G1376T组与A95G组相比较,两组间差异有显著统计学意义(P<0.05)。结论九江地区G6PD基因突变类型主要为G1388A和G1376T。
Objective To investigate the gene mutation types of neonatal jaundice with G6PD deficiency in Jiujiang area.Methods To analyse the neonates with pathologic jaundice in Jiujiang area. The G6PD activities were detected using the G6PD/6PGD ratio test. The G6PD gene mutations were analyzed with gene sequencing method. Results There were 19 cases of gene mutation in 100 neonates with pathologic jaundice,and the rate of gene mutation was 19%. There were 10 cases of G1388A gene mutation,7 cases of G1376T gene mutation and 2 cases of A95G gene mutation. For the comparison between G1388A and G1376T,the difference was not statistically significant（P〉0.05）. But for the comparison between G1388A and A95G,the difference was statistically significant（P〈0.05）;and for the comparison between G1376T and A95G,the difference was also statistically significant（P〈0.05）. Conclusion The main types of G6PD gene mutations are G1388A and G1376T in Jiujiang area.
出处
《实验与检验医学》
CAS
2017年第3期330-332,共3页
Experimental and Laboratory Medicine
基金
江西省卫生计生委科技计划(20167145)
