摘要目的:探讨遵义地区葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患儿致病基因突变类型及其主要临床特点。方法:选取2018年9月13日至2020年9月13日遵义医科大学附属医院贵州省儿童医院接诊的临床表现为"黄染"或"疑似黄染"的患儿，采用多色探针熔解曲线分析方法进行G6PD基因突变检测，分析G6PD缺乏症患儿致病基因突变类型以及临床特点。结果:G6PD基因突变检测结果显示，检测的1 740例患儿中，基因突变阳性病例119例，阳性检出率为6.84%。男性患儿构成比高于女性，差异有统计学意义（男性91例、女性28例，χ 2 = 15.10， P < 0.001）；婴儿期占63.87%（76/119），幼儿期占18.49%（22/119）。共检测出11种已知致病基因突变类型和1种未知突变。前4位的致病基因突变类型，总体为c.1024 C>T、c.1376 G>T、c.1388 G>A、c.95 A>G，男性为c.1376 G>T、c.1388 G>A、c.1024 C>T和c.95 A>G，女性为c.1024 C>T、c.95 A>G、c.1388 G>A和c.519 C>T。119例G6PD基因突变患儿中，90例有不同程度的黄疸，其中高度及以上黄疸36例（包括极重度新生儿胆红素脑病2例），轻中度黄疸54例；37例发生不同程度贫血，其中轻度贫血6例、中度贫血12例、重度及以上贫血19例（含极重度贫血1例）。 结论:遵义地区G6PD缺乏症患儿存在12种基因突变类型，以c.1024 C>T、c.1376 G>T、c.1388 G>A、c.95 A>G较为常见。G6PD缺乏症患儿多伴有不同程度黄疸和贫血。

abstractsObjective:To study the types of pathogenic gene mutations and their main clinical characteristics in children with glucose-6-phosphate dehydrogenase (G6PD) deficiency in Zunyi area.Methods:Children with clinical manifestations of "yellow staining" or "suspected yellow staining" who were admitted to Guizhou Children's Hospital, Affiliated Hospital of Zunyi Medical University, from September 13, 2018 to September 13, 2020 were selected for G6PD gene mutation detection by multicolor probe melting curve analysis, and the pathogenic gene mutation types and clinical characteristics of children with G6PD deficiency were analyzed.Results:The results of G6PD gene mutation detection showed that among the 1 740 children tested, 119 were positive for gene mutation, and the positive detection rate was 6.84%. The proportion of male infants was higher than that of female infants, and the difference was statistically significant (91 males and 28 females, χ 2 = 15.10, P < 0.001); infancy accounted for 63.87% (76/119), and early childhood accounted for 18.49% (22/119). A total of 11 known pathogenic gene mutation types and 1 unknown mutation were detected. Among the top 4 pathogenic gene mutations, the overall was c.1024 C>T, c.1376 G>T, c.1388 G>A and c.95 A>G, male was c.1376 G>T, c.1388 G>A, c.1024 C>T and c.95 A>G; female was c.1024 C>T, c.95 A>G, c.1388 G>A and c.519 C>T. Among the 119 children with G6PD gene mutation, 90 cases had varying degrees of jaundice, including 36 cases of severe and more severe jaundice (including 2 cases of extremely severe neonatal bilirubin encephalopathy), and 54 cases of mild to moderate jaundice; 37 cases had anemia of different degrees, including 6 cases of mild anemia, 12 cases of moderate anemia, and 19 cases of severe or more severe anemia (including 1 case of extremely severe anemia). Conclusions:There are 12 types of gene mutations in children with G6PD deficiency in Zunyi area, and the most common mutation types are c.1024 C>T, c.1376 G>T, c.1388 G>A and c.95 A>G. Children with G6PD deficiency are often accompanied by varying degrees of jaundice and anemia.