武汉市新生儿葡萄糖-6-磷酸脱氢酶缺失症筛查分析
|
摘要
目的了解武汉市新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺失症的发生情况。方法收集武汉市2016年11月至2018年11月出生的共计202 994例新生儿血液样本,采用时间荧光免疫法进行G6PD活性筛查,对219例G6PD筛查阳性者进行基因测序分析。结果初筛共筛出369例阳性,初筛阳性率0.18%。其中男性353例,女性16例;男性新生儿G6PD缺失症的发生率显著高于女性(P=0.000),且男性G6PD缺乏症的酶活性显著低于女性G6PD缺乏症患儿(P=0.012);通过对219例筛查阳性患儿进行基因测序分析,共检出182例患儿携带已知致病突变,突变率为83.1%。结论武汉新生儿G6PD缺陷症发生率虽然不高,但也存在一定的比例,并且性别间发生率和酶活存在显著差异,因此进行常规的新生儿G6PD缺陷筛查,有助于临床科室对G6PD缺乏症患儿采取及时的预防措施,避免核黄疸发生导致的不良后果,从而提高优生优育的水平。
Objective To investigate and analyze the incidence of glucose-6-phosphate(G6 PD)deficiency in Wuhan area. Methods A total of 202 994 neonates born in Wuhan area from November 2016 to November2018 were screened for G6 PD deficiency by fluorescence analysis. Among them,219 positive samples were subjected to genotyping analysis through Sanger sequencing. Results Results indicated that there were 369 cases were positive subjects,and the prevalence of G6 PD deficiency was 0.18%,including 353 males and 16 females. The incidence of G6 PD deficiency in male is higher than in female(P = 0.000),and the G6 PD deficiency in male is severe than in female,which with a lower G6 PD activity in male(P = 0.012). Among genotyping analysis,182 neonates were diagnosed as G6 PD deficiency,the definite diagnostic rate was 83.1%(182/219). Conclusions The prevalence rate of G6 PD deficiency in Wuhan area is 0.18%,and there was significantly difference between male and femalein the detection rate and G6 PD activity of neonatal G6 PD deficiency.
Objective To investigate and analyze the incidence of glucose-6-phosphate(G6 PD)deficiency in Wuhan area. Methods A total of 202 994 neonates born in Wuhan area from November 2016 to November2018 were screened for G6 PD deficiency by fluorescence analysis. Among them,219 positive samples were subjected to genotyping analysis through Sanger sequencing. Results Results indicated that there were 369 cases were positive subjects,and the prevalence of G6 PD deficiency was 0.18%,including 353 males and 16 females. The incidence of G6 PD deficiency in male is higher than in female(P = 0.000),and the G6 PD deficiency in male is severe than in female,which with a lower G6 PD activity in male(P = 0.012). Among genotyping analysis,182 neonates were diagnosed as G6 PD deficiency,the definite diagnostic rate was 83.1%(182/219). Conclusions The prevalence rate of G6 PD deficiency in Wuhan area is 0.18%,and there was significantly difference between male and femalein the detection rate and G6 PD activity of neonatal G6 PD deficiency.
引文
[1] GALATAS B,MABOTE L,SIMONE W,et al. Heterogeneity of G6PD deficiency prevalence in Mozambique:A school-based cross-sectional survey in three different regions[J]. Malar J,2017,16(1):36.
[2] BELFIELD K D,TICHY E M. Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency[J].Am J Health Syst Pharm,2018,75(3):97-104.
[3]赵琴,蔡桂丰,阮永铭,等. G6PD缺乏女性患儿行体外受精-胚胎移植结局分析[J].实用医学杂志,2018,34(15):2475-2477.
[4] JIANG J,LI B,CAO W,et al. Screening and prevention of neonatal glucose-6-phosphate dehydrogenase deficiency in Guangzhou,China[J]. Genet Mol Res,2014,13(2):4272-4279.
[5]唐佳,曾钦龙,杨应松,等.广东省江门地区G6PD缺乏症发生率及突变谱研究[J].热带医学杂志,2018,18(07):860-864.
[6] YANG H,WANG Q,ZHENG L,et al. Incidence and molecular characterization of glucose-6-Phosphate dehydrogenase deficiency among neonates for newborn screening in Chaozhou,China[J]. Int J Lab Hematol,2015,37(3):410-419.
[7] PENG Q,LI S,MA K,et al. Large cohort screeningof G6PD deficiency and the mutational spectrum in the Dong guan District in Southern China[J]. PLoS One, 2015, 10(3):e0120683.
[8]林芬,杨辉,杨立业.我国葡萄糖-6-磷酸脱氢酶缺乏症的分布特征和基因突变[J].分子诊断与治疗杂志,2016,8(02):73-77+98.
[9]章印红,朱姝,李利,等.昆明地区29527例新生儿葡萄糖-6-磷酸脱氢酶水平分析[J].中华实用儿科临床杂志,2014,29(23):1810-1813.
[10]忽丽莎,邹团标,刘锦桃,等.云南两边境州6民族0~6岁儿童G6PD缺乏症的流行病学调查研究[J].中国优生与遗传杂志,2010,18(11):133-135
[11]沈玉燕,黎剑,肖刚.怀化市266408例新生儿G6PD缺乏症筛查结果分析[J].中国优生与遗传杂志,2017,25(07):86+98.
[12]尹峰.泰安地区2010年~2012年度新生儿疾病筛查(四病)的结果分析[J].泰山医学院学报,2012,33(12):862-863.
[13]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.
[14]王金玮,赵娜.河北省廊坊市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析[J].中国优生与遗传杂志,2018,26(04):64-66.
[15]张娟玲,唐凯,刘郁明,等.宝鸡地区192469例新生儿G6PD筛查结果分析[J].中国优生与遗传杂志,2016,24(6):77-78.
[16]励南,沈玲萍,黄素. 34511例新生儿G6PD筛查及遗传咨询调查[J].中国优生与遗传杂志,2017,25(12):69-70,49.
[17] GOMEZ-MANZO S,MARCIAL-QUINO J,VANOYE-CARLO A,et al. Glucose-6-phosphate dehydrogenase:Update and analysis of new mutations around the world[J]. Int J Mol Sci,2016,9:17(12).
[18] CUNNINGHAM A D,HWANG S,MOCHLY-ROSEN D. Glucose-6-Phosphate DehydrogenaseDeficiency and the Need for a Novel Treatment to Prevent Kernicterus[J]. Clin Perinatol,2016,43(2):341-354.
[19] FU C,LUO S,LI Q,et al. Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi,China:determination of optimal cutoff value to identify heterozygous female neonates[J]. Sci Rep,2018,8(1):833.
[20] BOONYUEN U,CHAMCHOY K,SWANGSRI T,et al. Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase(G6PD)variants,G6PDViangchan and G6PDViangchan+Mahidol:Decreased stability and catalytic efficiency contribute to the clinical phenotype[J]. Mol Genet Metab,2016,118(2):84-91.
[21] MBANEFO E C,AHMED A M,TITOUNA A,et al. Association of glucose-6-phosphate dehydrogenase deficiency and malaria:a systematic review and meta-analysis[J]. Sci Rep,2017,7:45963.
[22] LIN F,LOU Z Y,XING S Y,et al. The gene spectrum of glucose-6-phosphate dehydrogenase(G6PD)deficiency in Guangdong province,China[J]. Gene,2018,678:312-317.
[2] BELFIELD K D,TICHY E M. Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency[J].Am J Health Syst Pharm,2018,75(3):97-104.
[3]赵琴,蔡桂丰,阮永铭,等. G6PD缺乏女性患儿行体外受精-胚胎移植结局分析[J].实用医学杂志,2018,34(15):2475-2477.
[4] JIANG J,LI B,CAO W,et al. Screening and prevention of neonatal glucose-6-phosphate dehydrogenase deficiency in Guangzhou,China[J]. Genet Mol Res,2014,13(2):4272-4279.
[5]唐佳,曾钦龙,杨应松,等.广东省江门地区G6PD缺乏症发生率及突变谱研究[J].热带医学杂志,2018,18(07):860-864.
[6] YANG H,WANG Q,ZHENG L,et al. Incidence and molecular characterization of glucose-6-Phosphate dehydrogenase deficiency among neonates for newborn screening in Chaozhou,China[J]. Int J Lab Hematol,2015,37(3):410-419.
[7] PENG Q,LI S,MA K,et al. Large cohort screeningof G6PD deficiency and the mutational spectrum in the Dong guan District in Southern China[J]. PLoS One, 2015, 10(3):e0120683.
[8]林芬,杨辉,杨立业.我国葡萄糖-6-磷酸脱氢酶缺乏症的分布特征和基因突变[J].分子诊断与治疗杂志,2016,8(02):73-77+98.
[9]章印红,朱姝,李利,等.昆明地区29527例新生儿葡萄糖-6-磷酸脱氢酶水平分析[J].中华实用儿科临床杂志,2014,29(23):1810-1813.
[10]忽丽莎,邹团标,刘锦桃,等.云南两边境州6民族0~6岁儿童G6PD缺乏症的流行病学调查研究[J].中国优生与遗传杂志,2010,18(11):133-135
[11]沈玉燕,黎剑,肖刚.怀化市266408例新生儿G6PD缺乏症筛查结果分析[J].中国优生与遗传杂志,2017,25(07):86+98.
[12]尹峰.泰安地区2010年~2012年度新生儿疾病筛查(四病)的结果分析[J].泰山医学院学报,2012,33(12):862-863.
[13]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.
[14]王金玮,赵娜.河北省廊坊市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析[J].中国优生与遗传杂志,2018,26(04):64-66.
[15]张娟玲,唐凯,刘郁明,等.宝鸡地区192469例新生儿G6PD筛查结果分析[J].中国优生与遗传杂志,2016,24(6):77-78.
[16]励南,沈玲萍,黄素. 34511例新生儿G6PD筛查及遗传咨询调查[J].中国优生与遗传杂志,2017,25(12):69-70,49.
[17] GOMEZ-MANZO S,MARCIAL-QUINO J,VANOYE-CARLO A,et al. Glucose-6-phosphate dehydrogenase:Update and analysis of new mutations around the world[J]. Int J Mol Sci,2016,9:17(12).
[18] CUNNINGHAM A D,HWANG S,MOCHLY-ROSEN D. Glucose-6-Phosphate DehydrogenaseDeficiency and the Need for a Novel Treatment to Prevent Kernicterus[J]. Clin Perinatol,2016,43(2):341-354.
[19] FU C,LUO S,LI Q,et al. Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi,China:determination of optimal cutoff value to identify heterozygous female neonates[J]. Sci Rep,2018,8(1):833.
[20] BOONYUEN U,CHAMCHOY K,SWANGSRI T,et al. Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase(G6PD)variants,G6PDViangchan and G6PDViangchan+Mahidol:Decreased stability and catalytic efficiency contribute to the clinical phenotype[J]. Mol Genet Metab,2016,118(2):84-91.
[21] MBANEFO E C,AHMED A M,TITOUNA A,et al. Association of glucose-6-phosphate dehydrogenase deficiency and malaria:a systematic review and meta-analysis[J]. Sci Rep,2017,7:45963.
[22] LIN F,LOU Z Y,XING S Y,et al. The gene spectrum of glucose-6-phosphate dehydrogenase(G6PD)deficiency in Guangdong province,China[J]. Gene,2018,678:312-317.