摘要
目的了解海南省黎族自治县地区葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase, G6PD)缺乏症发病情况和基因突变特点。方法收集该地区2017年1—12月出生的新生儿干血片,采用荧光分析法进行G6PD酶活性筛查,对初筛阳性的干血片样本采用多色探针荧光PCR熔解曲线法(MMCA)进行基因突变分析。结果共收集14 130例新生儿干血片,G6PD酶活性筛查共筛出1 059例阳性,初筛阳性率为7.49%,其中男性682例,女性377例,男性新生儿G6PD初筛阳性率9.13%,女性5.66%,男女初筛阳性率差异有统计学意义(P<0.01)。黎族新生儿初筛阳性率8.33%,汉族6.25%,不同民族比较差异有统计学意义(P<0.01)。通过MMCA法对1 059例初筛阳性干血片进行基因检测分析,共检出864例样本发生突变,突变率81.59%;男性突变率86.07%,女性73.47%,男女间差异有统计学意义(P<0.01);黎族突变率83.26%,汉族77.71%,突变率差异有统计学意义(P=0.033)。本次共检出11种G6PD基因单一突变型(c.1376 G>T、c.1388 G>A、c.95 A>G、c.871 G>A、c.519 C>T、c.1024 G>T、c.392G>T、c.1360C>T、c.517T>C、c.592C>T和c.86C>T)和5种复合突变型,其中c.1376 G>T复合c.871 G>A突变、c.1376 G>T复合c.517 T>C突变和c.392 G>T复合c.871G>A突变在海南省尚属首次报道。结论海南省黎族自治县地区是G6PD缺乏症高发区,黎族为高发人群,基因突变类型复杂多样,突变以c.1376G>T、c.1388G>A、c.95 A>G和c.871 G>A四种最为普遍。在G6PD缺乏症高发地区开展G6PD的活性筛查和基因检测,有利于G6PD缺乏症的确诊和防治,提高出生人口素质。
Objective To investigate and analyze the incidence and gene mutation characteristics of glucose-6-phosphate dehydrogenase(G6PD)deficiency in Li nationality Autonomous County of Hainan Province.Methods A total of 14130 neonates born in this area from January to December 2017 were screened for G6PD enzyme activity by fluorescence analysis.And positive samples were subjected to genotyping analysis by multicolor PCR-fluorogenic melting curve analysis(MMCA).Results It indicated that there were 1059 cases were positive subjects by G6PD enzyme activity screen,and the prevalence of G6PD deficiency was 7.49%,including 682 males and 377 females.The incidence of G6PD deficiency in male 9.13%was higher than in female 5.66%(P<0.01),and the incidence of G6PD deficiency in Li nationality 8.33%was higher than in Han nationality 6.25%(P<0.01).Among MMCA genotyping analysis,864 neonates were detected to carry mutations,the mutation rate of G6PD was 81.59%.The mutation rate of male 86.07%was higher than female 73.47%(P<0.01),and that of Li nationality 83.26%was higher than Han nationality 77.71%(P=0.033).A total of 11 kinds of single mutations(c.1376 G>T,c.1388 G>A,c.95 A>G,c.871 G>A,c.519 C>T,c.1024 G>T,c.392G>T,c.1360C>T,c.517T>C,c.592C>T and c.86C>T)and 5kinds of compound mutations were detected.The mutations of c.1376 G>T compound c.871 G>A,c.1376 G>T compound c.517T>C,and c.392 G>T compound c.871G>A were reported for the first time in Hainan province.Conclusion Li Nationality Autonomous County of Hainan Province was the high incidence area of G6PD deficiency,and Li nationality was high-risk population.The types of gene mutations were complex and diverse,with c.1376G>T,c.1388G>A,c.95 A>G and c.871 G>A being the most common mutations.G6PD activity screening and gene detection should be carried out in areas with high G6PD incidence,which is conducive to the diagnosis and prevention of G6PD deficiency and to improving the quality of the birth population.
作者
黄慈丹
刘秀莲
许海珠
杨春
朱晓妹
HUANG Ci-dan;LIU Xiu-lian;XU Hai-zhu;YANG Chun;ZHU Xiao-mei(Neonatal Disease Screening Center,Hainan Women and Children's Medical Center,Haikou,Hainan 570206,China)
出处
《中国热带医学》
CAS
2021年第3期225-228,273,共5页
China Tropical Medicine
基金
海南省自然科学基金面上项目(No.20168327)。
