龙岩地区黄疸新生儿G6PD缺乏症基因突变类型分析

Analysis of G6PD gene mutations in jaundiced neonates in Longyan area

目的探讨龙岩地区黄疸新生儿G6PD缺乏症基因突变类型。方法选取我院新生儿科住院的黄疸患儿1253例,对生化诊断G6PD缺乏的142例患儿采用Snapshot技术平台进行常见的12种G6PD基因突变检测。结果142例患儿中男性135例,女性7例,均检出G6PD基因突变位点,共检出8种单一位点突变,分别是c.1376G>T(70例)、c.1388G>A(46例)、c.1024C>T(7例)、c.871G>A(5例)、c.95A>G(5例)、c.392G>T(4例)、c.1360C>T(2例)、c.487G>A(1例);2种复合突变c.1388C>A/c.1376G>T(1例)、c.1376G>T/c.871G>A(1例),其中c.1376G>T和c.1388G>A总占比81.69%。结论龙岩地区黄疸新生儿人群G6PD缺乏症发病率较高,男性检出率显著高于女性;c.1376G>T、c.1388G>A是龙岩地区黄疸新生儿G6PD缺乏症较常见的基因突变类型。

Objective To investigate the types of G6PD gene mutations in jaundiced neonates in Longyan area.Methods A total of 1253 neonates who were hospitalized in our hospital were selected,among them there were 142 neonates who were biologically diagnosed with G6PD deficiency.Snapshot technology platform was used to detect the 12 common G6PD gene mutations.Results Among 142 patients,there were 135 males and 7 females.G6PD gene mutations were detected in all patients.c.1388G>A(46 cases),c.1024C>T(7 cases),c.871G>A(5 cases),c.95A>G(5 cases),c.392G>T(4 cases),c.1376G>T/c.871G>A(1 case),of which c.1376G>T and c.1388G>A accounted for 81.69%.Conclusion The incidence of G6PD deficiency in jaunty newborns in Longyan area is high,and the detection rate of G6PD deficiency in males is significantly higher than that in females.c.1376G>T and c.1388G>A are the most common mutations of G6PD deficiency in jaundice-stricken neonates in Longyan area.