摘要
目的探讨西双版纳州傣族地中海贫血基因检测结果。方法选取2020年5月1日至2023年5月23日于西双版纳州人民医院进行地贫基因诊断的育龄受检者共计20037例,采用跨越断裂点PCR技术监测缺失型α地中海贫血基因,应用反向斑点杂交技术检测非缺失型α与β地中海贫血基因。统计分析本地区地中海贫血变异类型。结果截止2023年5月23日,20037例检测者中共检出常见地贫基因携带者阳性3114例,检出率为15.54%,其中α地贫检出2006例,检出率为10.01%;β地贫788例,检出率为3.93%;α、β复合地贫320例,检出率为1.60%。α地贫以基因型^(--SEA)/αα、-α^(3.7)/αα、^(--SEA)/-α^(3.7)为主,构成比分别为50.648%、16.052%、10.618%,基因型-α^(3.7)/αα^(QS)、-α^(4.2)/αα^(WS)、-α^(4.2)/αα^(CS)位点突变相对较少,构成比分别为0.100%、0.100%、0.050%。β地贫患者以基因型β^(17M)/β、β^(41-42M)/β、β^(βEM)/β为主,构成比分别为33.122%、31.472%、17.766%,基因型β^(17M)/β^(-28M)、β^(17M)/β^(IVS-I-1M)、β^(41-42M)/β^(27-28M)、β^(41-42M)/β^(-28M)、β^(41-42M)/β^(IVS-I-1M)位点突变相对较少,均占0.127%。检出的α地贫复合β地贫中最常见的是^(--SEA)/αα复合β^(41-42M)/β(41例,构成比12.81%)。结论西双版纳州傣族地贫基因检出率高,孕龄夫妻需要予以地中海贫血基因诊断,从而为孕龄夫妻提供地中海贫血产前基因诊断提供依据。
Objective To explore the results of Genetic testing of Thalassemia in Dai nationality of Xishuangbanna.Methods A total of 20037 reproductive age individuals who came to our hospital for genetic diagnosis of thalassemia from May 1,2020 to May 23,2023 were selected.Cross breakpoint PCR technology was used to detect deletions α The gene of Thalassemia was monitored,and the non deletion type was detected by reverse dot blot hybridization α And β Thalassemia gene was detected.Statistical analysis of variation types of Thalassemia in the region.Results As of May 23,2023,out of the 20037 tested individuals,a total of 3114 Dai individuals with common ground poverty gene carriers were detected as positive,with a detection rate of 15.54% α There were 2006 cases of ground poverty detected,with a detection rate of 10.01%;β 788 cases of ground poverty,with a detection rate of 3.93%;α、β There were 320 cases of compound ground poverty,with a detection rate of 1.60%.α Genotype of thalassemia^(--SEA)/αα、-α^(3.7)/αα、^(--SEA)/-α^(3.7),with composition ratios of 50.648%,16.052%,and 10.618%,respectively.Genotype-α^(3.7)/αα^(QS)、-α^(4.2)/αα^(WS)、-α^(4.2)/αα^(CS)there are relatively few mutations at CS locus,with the constituent ratios of 0.100%,0.100% and 0.050% respectively.β The genotype of patients with ground poverty β^(17M)/β、β^(41-42M)/β、β^(βEM)/β mainly composed of 33.122%,31.472%,and 17.766% of genotypes,respectively β^(17M)/β^(-28M)、β^(17M)/β^(IVS-I-1M)、β^(41-42M)/β^(27-28M)、β^(41-42M)/β^(-28M)、β^(41-42M)/β^(IVS-I-1M)mutation is relatively small,accounting for 0.127%.The most common α-thalassemia complex β-thalassemia was^(--SEA)/α-thalassemia β^(41-42M)/(41 cases,composition ratio 12.81%).Conclusion The detection rate of thalassemia genes is high among the Dai ethnic group in Xishuangbanna Prefecture.Pregnant couples need to undergo genetic diagnosis of thalassemia,in order to provide a basis for prenatal genetic diagnosis of thalassemia for pregnant couples.
作者
余超
罗嫚第
孔滔
袁玉
覃宏高
YU Chao;LUO Man;KONG Tao;YUAN Yu;QIN Honggao(Department of Laboratory Medicine,Xishuangbanna Prefecture People's Hospital,Xishuangbanna,Yunnan,China,666100;Laboratory Department of Zhenxiong County People's Hospital,Zhaotong,Yunnan,China,657299)
出处
《分子诊断与治疗杂志》
2025年第10期2042-2044,2048,共4页
Journal of Molecular Diagnostics and Therapy
关键词
西双版纳州傣族
地中海贫血
基因检测
儿童
Dai people in Xishuangbanna Prefecture
Thalassemia
Genetic testing
children
