探讨海南省苗族新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病情况及其G6PD基因突变特点。

选择2017—2019年，于海南省接受G6PD缺乏症筛查的3 248例苗族新生儿为研究对象。采集其足跟血干血斑样本，采用荧光免疫分析法进行G6PD活性定量初筛；对G6PD活性<26 U/dL的初筛阳性苗族新生儿足跟血干血斑样本，采用聚合酶链反应(PCR)+导流杂交法，进行G6PD基因突变位点及其类型(纯合或杂合突变)分析。本研究经海南省妇幼保健院(现更名为：海南省妇女儿童医学中心)医学伦理委员会批准[审批文号：(2018)伦审第(35)号]，并与所有受试儿监护人签署研究知情同意书。

①这3 248例苗族新生儿的G6PD缺乏症初筛阳性率为7.1%(232/3 248)，接受基因检测的232例新生儿中，G6PD缺乏症发病率为86.2%(200/232)。本组男性与女性新生儿的G6PD缺乏症初筛阳性率及发病率比较，差异均无统计学意义(均为P>0.05)。②对232例G6PD缺乏症初筛呈阳性苗族新生儿的G6PD基因检测结果显示，200例新生儿发生G6PD基因突变，包括共计209个突变位点的12种突变，分别为c.1376G>T(占比62.7%)、c．1388G>A(占比21.1%)、c.95A>G、c.1311C>T、c.871G>A、c.1024G>T、c.392G>T、c．1360C>T、c.517T>C、c.592C>T、c.487G>A和c.383T>C。

海南省苗族人群G6PD缺乏症发病率较高，其G6PD基因突变以c.1376G>T及c.1388G>A为主。

To investigate prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and characteristics of G6PD gene mutations of neonates of Miao Nationality in Hainan Province.

A total of 3 248 neonates of Miao Nationality who received G6PD deficiency screening in Hainan Province from January 2017 to December 2019 were selected as research objects. G6PD activity quantity analysis of dried heel blood spots samples of them were measured by fluorescence immunoassay method for G6PD deficiency screening. For positive samples of G6PD deficiency whose G6PD activity<26 U/dL, polymerase chain reaction (PCR) with flow-through hybridization method was used to analyze G6PD gene mutation sites and types (homozygous or heterozygous mutation). This study was approved by Ethical Review Board of Hainan Maternal and Child Health Hospital (now renamed as Hainan Women and Children′s Medical Center) [Approval No. (2018)35]. All neonatal guardians signed the informed consents.

① Among 3 248 neonates of Miao Nationality, the screening positive rate of G6PD deficiency was 7.1%(232/ 3 248); among 232 neonates who received genetic testing, prevalence of G6PD deficiency was 86.2%(200/232). There were no significant differences in screening positive rate and prevalence of G6PD deficiency between male and female neonates (P>0.05 for both). ②G6PD gene detection results of 232 neonates with G6PD deficiency screening positive showed that 200 neonates had G6PD gene mutation, including 12 mutation types with 209 mutation sites, they were c. 1376G>T (accounted for 62.7%), c. 1388G>A (accounted for 21.1%), c. 95A>G, c. 1311C>T, c. 871G>A, c. 1024G>T, c. 392G>T, c. 1360C>T, c. 517T>C, c. 592C>T, c. 487G>A and c. 383T>C, respectively.

Miao Nationality population-based prevalence of G6PD deficiency is high in Hainan province, and their major mutations of G6PD gene are c. 1376G>T and c. 1388G>A.