四川南充地区1056例地中海贫血初筛阳性样本的基因诊断结果分析
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摘要
目的:了解四川南充地区人群α、β-地中海贫血的基因类型及分布特征。方法:选取南充市中心医院2015年7月至2017年7月就诊的MCV、MCH异常(MCV<80 fl和或MCH<27 pg),且已排除缺铁性贫血和其他贫血性疾病的疑似地中海贫血患者,采集EDTA抗凝静脉血3 m L,采用国际先进的多聚酶链扩增(GAP-PCR)技术和DNA芯片反向斑点杂交检测技术进行α、β-地中海贫血基因检测,包括α-地贫的3种缺失型(--SEA/αα、-α4.2/αα、-α3.7/αα、)、3种突变型(-ααCS/αα、-ααQS/αα、-ααWS/αα)及β-地贫的17种突变位点。结果:1 056例样本中共检出α、β-地贫330例,检出率为31.3%。其中,α-地贫168例(15.9%),β-地贫161例(15.3%),αβ复合突变1例(0.1%)。在330例确诊地贫样本中,α-地贫168例,构成比50.9%,有6种亚型:--SEA/αα、-α4.2/αα、-α3.7/αα、-ααCS/αα、-ααQS/αα、--SEA/-α3.7,以--SEA/αα(72.6%)、-α3.7/αα(17.9%)为主,占α-地贫的90.5%;β-地贫161例,构成比8.8%,有6种类型:CD17、CD41-42、-28、-29、IVS-II 654、CD41-42/-29,其中最常见的3种突变类型为:CD17(50.3%)、CD41-42(31.1%)及IVS-II 654(14.3%),占β-地贫的95.7%;α复合β-地贫1例(0.3%),基因型为-α3.7/αα复合βIVS-II-654M。1 056例受检者中,男性369例,检出地贫90例(24.4%),女性687例,检出地贫240例(34.9%),女性地贫基因检出率明显高于男性,差异具有统计学意义(χ2=12.423,P=0.001)。结论:四川南充地区是地中海贫血高发地区之一,α-地贫最常见的基因型为--SEA/aa,β-地贫以17M突变型最常见。
Objective: To understand the genotype and distribution characteristics of α,β-thalassemia in the population of Nanchong region of Sichuan. Methods: Retrospective study was done to review 1 056 patients with suspected thalassaemia who had been excluded from iron deficiency and other anaemic diseases,and MCV,MCH abnormalities( MCV < 80 fl and or MCH < 27 pg),from July2015 to July 2017 in Nanchong central hospital,collecting EDTA anticoagulant venous blood 3 m L. The international advanced polymerase chain amplification( GAP-PCR) technique and DNA chip. Reverse dot blot hybridization technique had been adopted for gene diagnosis of α,β-thalassemia. The tests included the three missing sites of α-thalassemia(--SEA/αα、-α4. 2/αα、-α3. 7/αα),three mutant sites of α-thalassemia(-ααCS/αα、-ααQS/αα、-ααWS/αα) and 17 mutant sites of β-thalassemia. Results: The positive rate of α,β-thalassemia was 31. 3% in 1056 samples. 168 cases of α-thalassemia( 15. 9%),β-thalassemia in 161 cases( 15. 3%),α-compoundβ-thalassemia in 1 case( 0. 1%). In 330 cases who were diagnosed as thalassemia,168 cases of α-thalassemia( 50. 9%),there were six subtypes:--SEA/αα、-α4. 2/αα、-α3. 7/αα、-ααCS/αα、-ααQS/αα、--SEA/-α3. 7,--SEA/αα( 72. 6%) and-α3. 7/αα( 17. 9%)accounting for 90. 5% of α-thalassemia. 161 cases of β-thalassemia( 8. 8%),there were six subtypes: CD17,CD41-42,-28,-29,IVS-II654,CD41-42/-29,the most common genotypes were CD17( 50. 3%),CD41-42( 31. 1%) and IVS-II 654( 14. 3%),accounting for95. 7% of β-thalassemia. aβ-halassemia 1 case( 0. 3%),the genotype was-α3. 7/αα combining βIVS-II-654 M. Among the 1 056 subjects,there were 369 males,90 cases of thalassemia( 24. 4%),687 women,240 cases of thalassemia( 34. 9%),and the positive rate of thalassemia gene was significantly higher than that of male,and the difference was statistically significant( χ2= 12. 423,P = 0. 001).Conclusion: Nanchong is one of the regions with high incidence of thalassaemia,the most common genotype of α-thalassemia in Nanchong area was-SEA/αα,β-thalassemia is the most common in 17 M mutant.
Objective: To understand the genotype and distribution characteristics of α,β-thalassemia in the population of Nanchong region of Sichuan. Methods: Retrospective study was done to review 1 056 patients with suspected thalassaemia who had been excluded from iron deficiency and other anaemic diseases,and MCV,MCH abnormalities( MCV < 80 fl and or MCH < 27 pg),from July2015 to July 2017 in Nanchong central hospital,collecting EDTA anticoagulant venous blood 3 m L. The international advanced polymerase chain amplification( GAP-PCR) technique and DNA chip. Reverse dot blot hybridization technique had been adopted for gene diagnosis of α,β-thalassemia. The tests included the three missing sites of α-thalassemia(--SEA/αα、-α4. 2/αα、-α3. 7/αα),three mutant sites of α-thalassemia(-ααCS/αα、-ααQS/αα、-ααWS/αα) and 17 mutant sites of β-thalassemia. Results: The positive rate of α,β-thalassemia was 31. 3% in 1056 samples. 168 cases of α-thalassemia( 15. 9%),β-thalassemia in 161 cases( 15. 3%),α-compoundβ-thalassemia in 1 case( 0. 1%). In 330 cases who were diagnosed as thalassemia,168 cases of α-thalassemia( 50. 9%),there were six subtypes:--SEA/αα、-α4. 2/αα、-α3. 7/αα、-ααCS/αα、-ααQS/αα、--SEA/-α3. 7,--SEA/αα( 72. 6%) and-α3. 7/αα( 17. 9%)accounting for 90. 5% of α-thalassemia. 161 cases of β-thalassemia( 8. 8%),there were six subtypes: CD17,CD41-42,-28,-29,IVS-II654,CD41-42/-29,the most common genotypes were CD17( 50. 3%),CD41-42( 31. 1%) and IVS-II 654( 14. 3%),accounting for95. 7% of β-thalassemia. aβ-halassemia 1 case( 0. 3%),the genotype was-α3. 7/αα combining βIVS-II-654 M. Among the 1 056 subjects,there were 369 males,90 cases of thalassemia( 24. 4%),687 women,240 cases of thalassemia( 34. 9%),and the positive rate of thalassemia gene was significantly higher than that of male,and the difference was statistically significant( χ2= 12. 423,P = 0. 001).Conclusion: Nanchong is one of the regions with high incidence of thalassaemia,the most common genotype of α-thalassemia in Nanchong area was-SEA/αα,β-thalassemia is the most common in 17 M mutant.
引文
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[13]杜伟,欧阳小峰,甘承文,等.重庆地区8024例地中海贫血筛查结果及地贫基因型分析[J].重庆医科大学学报,2014,39(5):694-697.
[2]Yu X,Yang LY,Yang HT,et al.Molecular Epidedmiological Investigation of Thalassemia in the Chengdu Region,Sichuan Province,Southwest China[J].Hemoglobin,2015,39(6):393-397.
[3]李凤,唐雪梅,蒲泽晏,等.遂宁地区珠蛋白生成障碍性贫血基因检测结果分析[J].检验医学与临床,2016,13(24):3533-3534.
[4]陈红英,邹艳,刘春艳,等.四川泸州地区贫血患儿地中海贫血筛查和基因诊断结果分析[J].中国儿童保健杂志,2013,11(23):1139-1141.
[5]王晶晶,朱文彪,黄霜,等.广州市1381例育龄人群地中海贫血基因谱分析[J].中国优生与遗传杂志,2015,23(2):5-7.
[6]田玉玲,雷力民,黄伟.2650例育龄期妇女地中海贫血的筛查结果分析[J].重庆医学,2014,43(31):4232-4234.
[7]牛倩,黄珣钡,安云飞,等.中国四川地区汉族及藏族人群地中海贫血基因分型调查[J].四川大学学报(医学版),2016,47(6):941-944.
[8]李良琼,熊见,王长本,等.渝东北区地中海贫血常见基因类型的调查研究[J].国际检验医学杂志,2015,36(6):753-757.
[9]林慧,段金良.广西不孕症妇女α和β地中海贫血的基因鉴定[J].中国优生与遗传杂志,2016,24(1):47-48.
[10]夏威夷,谭蓉,覃西.海南地区αβ复合型地中海贫血的基因型和血液型研究[J].中国妇幼保健,2015,30(14):2251-2254.
[11]万富明,欧丽琼,缪群英.自贡地区地中海贫血基因分布特征分析[J].国际检验医学杂志,2017,38(6):833-835.
[12]张迪,左方财,秦苑.黔西南州地区地中海贫血初步调查研究[J].现代医药卫生,2017,33(16):2504-2507.
[13]杜伟,欧阳小峰,甘承文,等.重庆地区8024例地中海贫血筛查结果及地贫基因型分析[J].重庆医科大学学报,2014,39(5):694-697.