2020-2022年1501例地中海贫血疑似病例基因检测结果分析  

Analysis of genetic diagnosis results of 1501 suspected Cases of thalassemia patients from 2020 to 2022

作　　者：杨雪丽 刘珍玉 张俊宁 王广宇 李继明 李春洪 侯显良 YANG Xue-Li;LIU Zhen-Yu;ZHANG Jun-Ning;WANG Guang-Yu;LI Ji-Ming;LI Chun-Hong;HOU Xian-Liang(Central Laboratory,Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases,The Second Affiliated Hospital of Guilin Medical University,Guilin 541199,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]桂林医学院第二附属医院中心实验室,广西慢性病代谢重塑与智能医学工程重点实验室,广西桂林541199

出　　处：《中国实验血液学杂志》2024年第6期1848-1851,共4页Journal of Experimental Hematology

基　　金：中央引导地方科技发展资金项目(桂科AD20238021);桂林市科学研究与技术开发项目(20210218-2)。

摘　　要：目的:探讨桂林市临桂区的地贫基因类型和频率分布,为该地区地贫防控工作提供参考。方法:对在桂林医学院第二附属医院进行地中海贫血基因检测的1501例疑似病例的检测结果进行回顾性分析。采用跨越断裂点PCR(gap-PCR)技术检测缺失型α地中海贫血基因,PCR-反向点杂交(PCR-RDB)技术检测非缺失型α地中海贫血基因和β地中海贫血基因。结果:在1501例被检者中,共检出地贫基因携带者678例,检出率为45.17%,其中α地贫(包括缺失型α地贫和非缺失型α地贫)379例,检出率为25.25%,以基因型--SEA/αα(227例,15.12%)为主,其次为-α^(3.7)/αα(53例,3.53%);β地贫270例,检出率为17.99%,以基因型β^(CD41-42)/β^(N)(144例,9.59%)为主,其次为β^(CD17)/β^(N)(66例,4.40%);α地贫复合β地贫29例,检出率为1.93%,以基因型--SEA/αα复合β^(CD41-42)/β^(N)(5例,0.33%)最为常见。结论:桂林市临桂区属于地中海贫血高发区,携带者基因型复杂多样,具有遗传异质性。本研究结果为该地区的遗传咨询和产前诊断提供了科学依据。Objective:To explore the genotypes and frequency distribution of thalassemia in Lingui District,Guilin City,and provide reference for the prevention and control of thalassemia in this area.Methods:The results of genetic testing for thalassemia in 1501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively.The deletional mutations ofα-thalassemia were detected by gap-PCR,the non-deletional mutations ofα-thalassemia andβ-thalassemia mutations were detected by PCR-reverse dot blot(PCR-RDB).Results:In 1501 samples,a total of 678 cases of thalassemia carriers were detected,with a detection rate of 45.17%.Among them,379 cases wereα-thalassemia(including deletionalα-thalassemia and non-deletionalα-thalassemia),with a detection rate of 25.25%,the most common genotype was--SEA/αα(227 cases,15.12%),followed by-α3.7/αα(53 cases,3.53%).270 cases ofβ-thalassemia were detected,with a detction rate of 17.99%,andβ^(CD41-42)/β^(N)(144 cases,9.59%)was the main genotypes,followed byβ^(CD17)/β^(N)(66 cases,4.40%).In addition,there were 29 cases ofαβcompound thalassemia,accounting for 1.93%,and the most common genotype was--SEA/ααcomplexβ^(CD41-42)/β^(N)(5 cases,0.33%).Conclusion:Lingui District in Guilin City is a high-incidence area of thalassemia,and the genotypes of carriers are complex and diverse,with genetic heterogeneity.The results of this study provide a scientific basis for genetic counseling and prenatal diagnosis in this area.

关 键 词：桂林市临桂区 地中海贫血 基因型 频率 

分 类 号：R556.61[医药卫生—血液循环系统疾病]