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中文摘要：
目的了解广西百色地区葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的基因突变类型，探讨G6PD缺乏症基因突变与新生儿黄疸的关系。方法采用PCR加反向点杂交技术快速检测方法对广西百色地区70例G6PD缺乏症的新生儿进行基因突变检测，并对其临床表现进行分析。结果70例G6PD缺乏症的新生儿中共检出基因突变60例，其中G1388A14例（23．33％），G1376T16例（26．67％），A95G20例（33．33％），C1024T7例（11．67％），复合位点G1388A＋A95G3例（5．00％）。10例未检出突变类型。各基因型患儿均有不同程度黄疽，但其黄疸出现时间、血清总胆红素值及血红蛋白比较差异均无统计学意义（P〉0．05），G1388A与G1376T的黄疸程度较重。结论G1388A、G1376T、A95G、C1024T是广西百色地区主要的G6PD基因突变型，并检出国内少有的复合位点G1388A＋A95G基因突变型，且均可引起新生儿黄疽，引起新生儿黄疸临床表现的严重程度从重至轻的次序为G1388A、G1376T、A95G、C1024T、G1388A＋A95G。
英文摘要：
Objective To observe the gene mutation type caused by Glucose-6-phosphate Dehydrogenase （G6PD） deficiency so as to study the relation between G6PD gene mutation and neonatal jaundice in Baise of Guangxi. Methods Reverse hybridization point mutation detection method was used to detect Gene mutation of 70 newborns with G6PD deficiency in Baise region and the clinical manifestations were analyzed. Results Among the detected newborns with G6PD deficiency, 60 cases were proved to have gene mutation, of which 14 cases （23.33%） got G1388A,16 cases （26.67%） got G1376T,20 cases （33.33%） got A95G,7 cases （11.67%） got C1024T and 3 cases （5.00%） got complex site G1388A plus A95G. 10 cases were proved not having mutation types. All newborns with genotypes bad varying degrees of jaundice, but there was no significant difference in the comparison of the time of suf- fering jaundice,total bilirubin value and blood hemoglobin（ P 〉0.05）.Cases with G1388A and G1376T had higher degree of jaundice.Conclusion G1388A,G1376T,A95G,C1024T are the main types of G6P[） gene mutation in Baise region.G1388A and A95G gene mutation type,one of the domestic complex sites which are not commonly seen in China,is found in this region. All the above-mentioned gene mutation types can cause neonatal jaundlce.The severity degree of the clinical manifestations of neonatal jaundice caused by gene types ranked from severe to light as follows： Gla88A,G1376T,A95G,ClO24T and G1388A＋A95G.
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