【摘要】 目的　探讨柳州地区籍女性新生儿黄疸儿G6PD基因突变类型与其临床表现特点之间的关系。方法　采用基因芯片技术检测了7例柳州地区籍女性新生儿黄疸儿的G6PD基因突变类型,并对其临床表现特点进行分析。结果　(1) 7例女患儿G6PD基因突变共检出4种类型,包括G1388A、A95G、G1376T及G392T ,其中5例为杂合子。(2 )G6PD酶学检查5例表现为中间型,且临床黄疸症状较轻,治疗效果好。结论　柳州地区籍女性新生儿黄疸儿的G6PD基因突变类型多见G1388A、A95G、G1376T突变,以杂合子改变占多数。更多还原

【Abstract】 Objective:To study the relationship between the mutant types of G6PD and its representation of the female neonatal jundice from the Liuzhou district. Methods:The mutant types of the 7 female neonatal jundice from the Liuzhou district were detected with the DNA microchips,and their clinical features were studied.Results:(1)4 mutant types of G6PD were fund,namely G1388A,A95G,G1376T and G392T,the 5 were hybrid type.(2)The 5 cases represented as the middle type of enzymology,and the clinic syptom were relatively mild with fairly favorable prognosis. Conclution:The main mutant types of G6PD in the female neonatal jundice from the Liuzhou district were G1388A,A95G,G1376T and G392T,in which the most were hybrid type.更多还原