广西柳州地区G-6PD基因突变与新生儿黄疸关系的初步探讨  

Relationship between the mutation of G-6PD in the area of Liuzhou,Guangxi and neonatal jaundice

作　　者：沙林林[1] 谢建生 林希平[1] 赵应斌[1] 黄献文[1] 赵志斌[1] 杨彤[1] 

机构地区：[1]广西柳州市人民医院,545001 [2]深圳市妇女儿童医院

出　　处：《中国实用儿科杂志》2003年第11期655-657,共3页Chinese Journal of Practical Pediatrics

基　　金：广西柳州市科委科技攻关基金 ( 2 0 0 10 12 0 )资助

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。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.

关 键 词：广西 柳州地区 G-6PD 基因突变 新生儿 黄疸 葡萄糖-6磷酸脱氢酶 

分 类 号：R722.17[医药卫生—儿科] R394[医药卫生—临床医学]