重庆市新生儿高胆红素血症患儿G6PD基因突变类型及临床特点

目的研究重庆市新生儿黄疸儿G6PD三种常见基因突变与其临床表现特点之间的关系。初步估计其基因突变频率并探讨其临床意义和遗传学特征。方法应用突变特异性扩增系统(ARMS)法,检测54例重庆市新生儿黄疸儿的G6PD基因突变类型。结果检出G1388A突变39例(72%),G1376T突变8例(15%),未定型者7例(13%)。未检出G95A。结论本研究首次对重庆市新生儿黄疸儿进行G1388A、G1376T和A95G突变检测。提示G1388A和G1376T为重庆市新生儿黄疸儿G6PD缺乏症基因突变的主要类型。ARMS法是一种简便、快速、经济的检测G6PD已知基因突变的方法。本研究发现这两种突变类型仅见于中国人和华裔人群,具有遗传学及临床意义。

The mutation of G6PD and its representation in neonate jaundice in Chongqing

Objective To study relationship between the mutant types of G6PD and its representation of the neonatal jaundice from the Chongqing city. Methods G6PD gene mutation of 54 samples from G6PD deficient patients was detected by using amplification refractory mutation system. and to estimate the approximate frequencies of gene mutations and to discuss the clinical significance and genetics characteristic. Results 54 cases of neonatal patients with G6PD deficiency were examined, and 39 of them were identified to be G1388A(72%), 8 were G1376T(15%), The G1388A and G1376T mutations account For 87% of the 54 cases and were the main types of G6PD gene mutations of infant, newborn in Chongqing city. Conclusion G1388A and G1376T gene mutations were the main types of in neonate jaundice patients with G6PD deficiency in the Chongqing. AMRS methods can be used in detecting definit mutations of G6PD gene with the benefits of simple, fast, economic. There are of great benefits to genetics and clinic.