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[1]巫亮招,溫玲英,熊冬蓮,等.龍巖地區(qū)黃疸新生兒G6PD缺乏癥基因突變類型分析[J].福建醫(yī)藥雜志,2023,45(05):16-19.
　WU Liangzhao,WEN Lingying,XIONG Donglian,et al.Analysis of G6PD gene mutations in jaundiced neonates in Longyan area[J].FUJIAN MEDICAL JOURNAL,2023,45(05):16-19.
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龍巖地區(qū)黃疸新生兒G6PD缺乏癥基因突變類型分析()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
45
期數(shù):
2023年05期
頁碼:
16-19
欄目:
臨床研究
出版日期:
2023-10-15

文章信息/Info

Title:
Analysis of G6PD gene mutations in jaundiced neonates in Longyan area
文章編號:
1002-2600(2023)05-0016-04
作者:
巫亮招; 溫玲英; 熊冬蓮; 陳建東; 鐘榮華1; 黃碧容
福建醫(yī)科大學(xué)附屬龍巖第一醫(yī)院新生兒科(龍巖 364000)
Author(s):
WU Liangzhao;  WEN Lingying;  XIONG Donglian;  CHEN Jiandong;  ZHONG Ronghua;  HUANG Birong
Department of Neonatology, the First Affiliated Hospital of Longyan Fujian Medical University, Longyan, Fujian 364000, China
關(guān)鍵詞:
新生兒;  黃疸;  G6PD缺乏癥;  基因突變
Keywords:
neonates;  jaundice;  G6PD deficiency;  gene mutation
分類號:
R934
文獻標(biāo)志碼:
B
摘要:
目的 探討龍巖地區(qū)黃疸新生兒G6PD缺乏癥基因突變類型。方法 選取我院新生兒科住院的黃疸患兒1 253例,對生化診斷G6PD缺乏的142例患兒采用Snapshot技術(shù)平臺進行常見的12種G6PD基因突變檢測。結(jié)果 142例患兒中男性135例,女性7例,均檢出G6PD基因突變位點,共檢出8種單一位點突變,分別是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種復(fù)合突變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總占比81.69%。結(jié)論 龍巖地區(qū)黃疸新生兒人群G6PD缺乏癥發(fā)病率較高,男性檢出率顯著高于女性; c.1376G>T、c.1388G>A是龍巖地區(qū)黃疸新生兒G6PD缺乏癥較常見的基因突變類型。
Abstract:
Objective To investigate the types of G6PD gene mutations in jaundiced neonates in Longyan area.Methods A total of 1 253 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.

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備注/Memo

備注/Memo:
基金項目:龍巖市科學(xué)技術(shù)局聯(lián)合資金項目(2020LYF17027)
1 通信作者,Email:[email protected]
更新日期/Last Update: 2023-10-15