钦州地区葡萄糖-6-磷酸脱氢酶男性参考区间的建立及其在女性人群中的验证

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【关键词】 葡萄糖-6-磷酸脱氢酶;参考区间;全外显子组测序;酶活性;钦州地区;半合子突变中图分类号：R556 文献标志码：A DOI：10.3969/j.issn.1003-1383.2026.01.006

Establishment of reference interval of male glucose-6-phosphate dehydrogenase in Qinzhou area and its verification in female population

FAN Zuqian ！ ，HUANG Guosheng'，TIAN Long'，，LI Pe ⋅1 ，SUN Lei1，2（1.DepartmentofLaboratoryMedicine，QinzhouMaternalandChild Health Hospital，Qinzhou535O99，Guangxi，China;2. Department of Medicine， Xi'an Jiaotong University， Xi'an 71O086， Shaanxi， China）

【Abstract】ObjectiveTo establish reference interval（RI）for glucose-6-phosphate dehydrogenase（G6PD）activity in the populationofQinzhouarea，andtoverifyitsappicabilitytoallocal populations.MethodsG6PDenzymeactivitydata of males in Qinzhou area were collected and divided into newborn group（ ⩽ 28 days）and child-adult group（ 28 days）via dataanalysis.The normalRIformalesand theunilateral reference upper limit for hemizygous mutationswereestablished， respectively.Maleand female samples with normal G6PDgene wereusedtovalidate theapplicabilityofthe interval.Results There was statistically significant difference between the newborn group and the child-adult group （ P<0.05 ）. The normal RI of G6PD in males of the newborn group and the child-adult group were 3061-6462U/L and1914-4849 U/L， respectively；theunilateral 95% reference upper limits for hemizygous mutations were 661 U/L and 51o U/L，respectively. Validation with gene-normal samples showed that the proportion of samples outside the interval was ⩽10% ，meeting the validationrequirements.ConclusionTheG6PDactivityRI established inthis studyisapplicable toallpopulations in Qinzhou area，which providesareliablebasis forclinical testing.Itsestablishment methodcanbeservedasareferenceforsimilar projects where direct RI establishment is difficult.

【Keywords】glucose-6-phosphate dehydrogenase（G6PD）； reference interval（RI）；whole exome sequencing（WES）;enzymeactivity；Qinzhou area；hemizygousmutation

葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate de-hydrogenase，G6PD）缺乏症是人类最普遍的酶缺陷疾病之一，全球约4亿人受其影响。（剩余7755字）