[1]巫亮招,温玲英,熊冬莲,等.龙岩地区黄疸新生儿G6PD缺乏症基因突变类型分析[J].福建医药杂志,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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龙岩地区黄疸新生儿G6PD缺乏症基因突变类型分析()
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《福建医药杂志》[ISSN:1002-2600/CN:35-1071/R]

卷:
45
期数:
2023年05期
页码:
16-19
栏目:
临床研究
出版日期:
2023-10-15

文章信息/Info

Title:
Analysis of G6PD gene mutations in jaundiced neonates in Longyan area
文章编号:
1002-2600(2023)05-0016-04
作者:
巫亮招; 温玲英; 熊冬莲; 陈建东; 钟荣华1; 黄碧容
福建医科大学附属龙岩第一医院新生儿科(龙岩 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
关键词:
新生儿;  黄疸;  G6PD缺乏症;  基因突变
Keywords:
neonates;  jaundice;  G6PD deficiency;  gene mutation
分类号:
R934
文献标志码:
B
摘要:
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1 253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。
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.

参考文献/References:

[1] 王洪芹,魏明,李文杰.青岛地区新生儿G6PD缺乏症患病情况及基因突变类型研究[J].中国儿童保健杂志,2018,26(11):1233-1236.
[2] Elzouki A Y,Harfi H A,Nazer H M,et al.Textbook of clinical pediatrics[M].2nd ed.Heidelberg:Springer,2012:359.
[3] 蒙莉,马文良.客家新生儿G-6-PD缺陷症筛查34537例分析[J].包头医学,2015,39(1):31-32.
[4] 黄慈丹,刘秀莲,许海珠,等.海南黎族自治县地区新生儿G6PD缺乏症基因分析[J].中国热带医学,2021,21(3):225-228,273.
[5] 俸诗瀚,黄丽梅,蒋婷婷,等.广西壮族自治区新生儿葡萄糖-6-磷酸脱氢酶缺乏症的遗传学分析[J].中华地方病学杂志,2021,40(11):927-931.
[6] 何英,陈雄豪,林广城,等.葡萄糖-6-磷酸脱氢酶缺乏症女性杂合子基因突变检测的临床意义[J].中国实验血液学杂志,2020,28(5):1757-1761.
[7] Tseghereda Y G, Nganga J K, Kimang'a A N, et al.Glucose-6-phosphate dehydrogenase deficiency allelic variants and their prevalence in malaria patients in Eritrea[J].Pan Afr Med J,2018(31):46.
[8] Assefa A, Ali A, Deressa W, et al.Glucose-6-phosphate dehydrogenase(G6PD)deficiency in Ethiopia:absence of common African and Mediterranean allelic variants in a nationwide study[J].Malar J,2018,17(1):388.
[9] 张蜜,朱俐莎,李贵南.新的G6PD基因半合变异导致新生儿G6PD缺乏症一例[J].中国医师杂志,2022,24(5):763-765.
[10] Zheng Y, Wang J, Liang X, et al.Epidemiology,evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populations[J].Mol Genet Genomic Med,2020,8(12):e1540.
[11] 李富,陈海玲,聂俊玮,等.广东省茂名地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症基因突变型研究[J].海南医学,2022,33(1):62-64.
[12] 苏震,许力丹,李情情,等.海南地区人群G6PD基因突变分析[J].基因组学与应用生物学,2020,39(7):3208-3212.
[13] 朱俐莎,张蜜,李贵南.120例湖南省汉族黄疸新生儿G6PD基因突变位点的研究[J].国际儿科学杂志,2022,49(11):777-781.
[14] 彭瑛,詹小亭,邓正华,等.中国西南三区216例儿童葡萄糖-6-磷酸脱氢酶缺乏症基因型分布和临床特征分析[J].广东医学,2019,40(13):1856-1860.
[15] Chen Y, Xiu W, Dong Y, et al.Mutation of glucose-6-phosphate dehydrogenasedeficiency in Chinese Han children in eastern Fujian[J].Medicine(Baltimore),2018,97(30):e11553.
[16] 刘文煌,林丽琴,陈田田,等.漳州市233例新生儿葡萄糖-6-磷酸脱氢酶缺乏症基因突变分析[J].中国妇幼卫生杂志,2017,8(2):64-68.
[17] 周建福,刘莉莉,黄茂新,等.莆田地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症突变基因型及酶活性亚型分析[J].山东第一医科大学(山东省医学科学院)学报,2022,43(8):601-604.
[18] 袁静.G6PD基因突变位点与酶活性、新生儿溶血性黄疸的关系[J].中外医疗,2021,40(14):39-42.
[19] 严争,刘凡,陈珊,等.新生儿不同程度高胆红素与G6PD基因突变关系的研究[J].福建医药杂志,2020,42(5):8-11.
[20] 刘秀莲,王洁,林燕,等.346例海南黎族新生儿G6PD基因突变分析[J].基因组学与应用生物学,2019,38(9):4224-4229.

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备注/Memo

备注/Memo:
基金项目:龙岩市科学技术局联合资金项目(2020LYF17027)
1 通信作者,Email:zrh5628@163.com
更新日期/Last Update: 2023-10-15