| 522例葡萄糖-6-磷酸脱氢酶缺乏症患儿基因突变频率分析 |
| 投稿时间：2024-12-16 修订日期：2025-02-02 点此下载全文 |
| 引用本文：周明香,姚正联,赵华娟,申林强,马健娟,杨红兰,庹媛媛,李燕,王一慧,杨小燕.522例葡萄糖-6-磷酸脱氢酶缺乏症患儿基因突变频率分析[J].医学研究杂志,2025,54(7):42-46 |
| DOI：
10.11969/j.issn.1673-548X.2025.07.009 |
| 摘要点击次数: 5 |
| 全文下载次数: 4 |
| 作者 | 单位 | | 周明香 | 贵州医科大学儿科学院,贵阳，550004 | | 姚正联 | 贵州医科大学儿科学院,贵阳，550004 | | 赵华娟 | 贵州医科大学儿科学院,贵阳，550004 | | 申林强 | 贵州医科大学儿科学院,贵阳，550004 | | 马健娟 | 贵州医科大学附属医院儿科、贵州省儿童医学中心,贵阳，550004 | | 杨红兰 | 贵州医科大学附属医院儿科、贵州省儿童医学中心,贵阳，550004 | | 庹媛媛 | 贵州医科大学附属医院儿科、贵州省儿童医学中心,贵阳，550004 | | 李燕 | 贵州医科大学附属医院儿科、贵州省儿童医学中心,贵阳，550004 | | 王一慧 | 贵州医科大学附属医院儿科、贵州省儿童医学中心,贵阳，550004 | | 杨小燕 | 贵州医科大学附属医院儿科、贵州省儿童医学中心,贵阳，550004 |
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| 基金项目:国家自然科学基金地区科学基金资助项目(82060033)；贵州省留学人才创新择优资助项目[留学人才择优资助合同(2022)10号] |
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| 中文摘要:目的 对522例葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症患儿进行基因突变类型及频率分析,探讨贵州省儿童G6PD缺乏症的基因突变特征。方法 选取2017年1月1日～2023年12月30日于贵州医科大学附属医院完善基因检测的522例患儿为研究对象,回顾性分析G6PD基因突变频率及特点。结果 522例基因突变阳性病例中,男性突变病例占91.18%,女性病例占8.82%,平均年龄为1.66±1.89岁；研究共检测到突变类型18种,包括10种G6PD单基因突变和8种复合突变,以c.1388 G>A、c.1024 C>T、c.95 A>G、c.1376 G>T4种基因型为主,分别占29.31%、23.75%、17.63%、17.06%；检测阳性病例中男性患儿占91.19%,复合突变病例均为女性；94%基因突变类型为B类,没有检测到A类突变。结论 共检测出18种G6PD基因突变,其中以c.1388 G>A、c.1024 C>T、c.95 A>G、c.1376 G>T等突变类型最常见；绝大部分为男性患儿,复合突变类型丰富且均见于女性患儿。贵州省是G6PD缺乏症高发地区,G6PD基因检测有利于及早诊断G6PD缺乏症,利于防治因G6PD基因缺陷引起的黄疸、溶血、贫血等严重并发症。 |
| 中文关键词:葡萄糖-6-磷酸脱氢酶缺乏症 基因 突变 频率 |
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| Gene Mutation Types and Characteristics of 522 Children with Glucose-6-Phosphate Dehydrogenase Deficiency. |
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| Abstract:Objective To study the frequency of gene mutations in 522 children with glucose-6-phosphate dehydrogenase (G6PD) deficiency who were admitted to the Affiliated Hospital of Guizhou Medical University to explore the genetic mutation characteristics of them in children in Guizhou region. Methods To select 522 pediatric patients who underwent G6PD genetic testing at the Affiliated Hospital of Guizhou Medical University from January 1,2017 to December 30,2023, and the frequency and clinical characteristics of these patients were analyzed. Results Among the 522 patients with gene mutations, male cases accounted for 91.18%, female cases accounted for 8.82%, and the average age was (1.66±1.89) years; a total of 18 types of mutations were detected in this study, including 10 G6PD gene mutations and 8 compound gene mutations. The four main genotypes were c.1388 G>A, c.1024 C>T, c.95 A>G and c.1376 G>T, accounting for 29.31%, 23.75%, 17.63% and 17.06%, respectively; Among the cases, male patients accounted for 91.18%, and all cases of compound mutations were female; The majority were class B variants, and no class A were detected. Conclusion Eighteen G6PD gene mutations were detected with G6PD deficiency, and c.1388 G>A, c.1024 C>T, c.95 A>G, c.1376 G>T were the first four types; The majority of patients were male, with a variety of complex mutation types, all of which were found in female patients. Guizhou province is a high-risk area for G6PD deficiency, and G6PD gene testing is beneficial for early diagnosis, prevention of G6PD deficiency and treatment of serious complications such as hemolysis and jaundice caused by G6PD gene deficiency. |
| keywords:Glucose-6-phosphate dehydrogenase deficiency Gene Mutation Frequency |
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