重庆地区2850例地中海贫血患者基因分析
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摘要
目的分析重庆地区2 850例地中海贫血患者基因型的分布。方法以2014年1月至2017年9月就诊于陆军特色医学中心和陆军军医大学新桥医院的6 609名疑似地中海贫血患者为研究对象,采用缺口聚合酶链反应法和反向点杂交技术对该群体地中海贫血相关基因进行检测。分析检测结果为阳性的患者地中海贫血基因型分布及其在不同年龄阶段和不同性别中的分布差异。结果共检测出2 850例(检出率43.05%)地中海贫血患者(0～88岁),其中男707例(24.81%),女2 143例(75.19%)。α地中海贫血患者1 245例(43.68%),β地中海贫血患者1 562例(54.81%)、α地中海贫血合并_β地中海贫血患者43例(1.51%)。本次α地中海贫血检出--~(SEA)/aa、-a~(3.7)/aa、--~(SEA)/a~(3.7)、-a~(3.7)/-a~(4.2)、--~(SEA)/a~(4.2)、-a~(4.2)/aa、aa~(QS)/aa、aa~(CS)/aa、aa~(WS)/aa、--~(SEA)/aa~(WS)、--~(SEA)/aa~(QS)、--~(SEA)/aaCS共计12种基因型,以--~(SEA)/aa基因型(790例)和-a~(3.7)/aa(274例)最多见,构成比分别为63.45%、22.01%。β地中海贫血检出CD17、CD41-42、Ivs-2-654、-28、CD71-72、βE、CD43、CD27-28、-29、CAP、IVS-1-1、CD14-15、CD17/Ivs-2-654、CD17/βE、CD17/43、Ivs-2-654/βE、-28/βE、CD41-42/17共计18种基因型,其中CD17(475例)、CD41-42(466例)、Ivs-2-654(424例)3种基因型多见,构成比分别为30.41%、29.83%、27.14%。结论重庆地区地中海贫血患者以--~(SEA)/aa、-a~(3.7)/aa、CD17、CD41-42、Ivs-2-654 5种基因型多见。
Objective To analyze the distribution of genotypes among 2 850thalassemia patients in Chongqing area.Methods A total of 6 609suspected thalassemia patients from Chongqing area enrolled in Army Featured Medical Center and Xinqiao Hospital of Army Military Medical University were selected as the study subjects.The Gap-PCR and RDB were used to detect the thalassemia related genes in this population.The thalassemia genotype distribution in patients with positive test results was analyzed and their distribution at different ages and genders were analyzed.Results A total of 2 850patients(0-88years old)with thalassemia were detected(detection rate 43.05%),including 707 male cases(24.81%)and 2 143female cases(75.19%).There were 1 245patients(43.68%)withα-thalassemia,1 562patients(54.81%)withβthalassemia,and 43patients(1.51%)withβ-thalassemia complicatingβ-thalassemia.A total of 12genotypes--~(SEA)/aa,-a~(3.7)/aa,--~(SEA)/a~(3.7),-a~(3.7)/-a~(4.2),--~(SEA)/a~(4.2),-a~(4.2)/aa,aa~(QS)/aa,aa~(CS)/aa,aa~(WS)/aa,--~(SEA)/aa~(WS),--~(SEA)/aa~(QS),--~(SEA)/aaCS were detected in thisα-thalassemia.The most common ones were--~(SEA)/aagenotype(790cases)and,-a~(3.7)/aa(274cases),and the constituent ratios were 63.45%,22.01%.A total of 18genotypes of CD17,CD41-42,Ivs-2-654,-28,CD71-72,βE,CD43,CD27-28,-29,CAP,IVS-1-1,CD14-15,CD17/A inβ-thalassemia were detected out.Among them CD17(475cases),CD41-42(466cases)and Ivs-2-654(424cases)were common,and the constituent ratios were 30.41%,29.83%and 27.14%,respectively.Conclusion Thalassemia patients in Chongqing area are more common in the five genotypes--~(SEA)/aa,-a~(3.7)/aa,CD17,CD41-42,Ivs-2-654.
Objective To analyze the distribution of genotypes among 2 850thalassemia patients in Chongqing area.Methods A total of 6 609suspected thalassemia patients from Chongqing area enrolled in Army Featured Medical Center and Xinqiao Hospital of Army Military Medical University were selected as the study subjects.The Gap-PCR and RDB were used to detect the thalassemia related genes in this population.The thalassemia genotype distribution in patients with positive test results was analyzed and their distribution at different ages and genders were analyzed.Results A total of 2 850patients(0-88years old)with thalassemia were detected(detection rate 43.05%),including 707 male cases(24.81%)and 2 143female cases(75.19%).There were 1 245patients(43.68%)withα-thalassemia,1 562patients(54.81%)withβthalassemia,and 43patients(1.51%)withβ-thalassemia complicatingβ-thalassemia.A total of 12genotypes--~(SEA)/aa,-a~(3.7)/aa,--~(SEA)/a~(3.7),-a~(3.7)/-a~(4.2),--~(SEA)/a~(4.2),-a~(4.2)/aa,aa~(QS)/aa,aa~(CS)/aa,aa~(WS)/aa,--~(SEA)/aa~(WS),--~(SEA)/aa~(QS),--~(SEA)/aaCS were detected in thisα-thalassemia.The most common ones were--~(SEA)/aagenotype(790cases)and,-a~(3.7)/aa(274cases),and the constituent ratios were 63.45%,22.01%.A total of 18genotypes of CD17,CD41-42,Ivs-2-654,-28,CD71-72,βE,CD43,CD27-28,-29,CAP,IVS-1-1,CD14-15,CD17/A inβ-thalassemia were detected out.Among them CD17(475cases),CD41-42(466cases)and Ivs-2-654(424cases)were common,and the constituent ratios were 30.41%,29.83%and 27.14%,respectively.Conclusion Thalassemia patients in Chongqing area are more common in the five genotypes--~(SEA)/aa,-a~(3.7)/aa,CD17,CD41-42,Ivs-2-654.
引文
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[7]徐卫华,陈鑫苹,李晓娟,等.海南地区地中海贫血基因分型及频率的研究[J].中国热带医学,2013,13(7):804-806.
[8] HE X,SHENG M,XU M,et al.Rapid identification of common beta-thalassemia mutations in the Chinese population using duplex or triplex amplicon genotyping by high-resolution melting analysis[J].Genet Test Mol Biomarkers,2010,14(6):851-856.
[9] VAN DER PADT A,BOUVA M,AUWERDA J J,et al.Adult onset of a thalassemia intermedia genotype in association with A-alpha-(3.7)homozygosity.Hb G-accra{beta 73(E17)Asp-> Asn}in combination with betaand alpha-thalassemia in the same family[J].Hemoglobin,2005,29(4):269-276.
[10]COX S,KUJAK J,PRINCENTHAL R,et al.Skeletal and extraskeletal manifestations of mixed alpha and beta thalassemia[J].Radiol Case Rep,2012,7(3):524.
[11]HE S,QIN Q,LIN L,et al.Complex interaction of Hb QThailand with alpha(0)-and beta(0)-thalassemia in a Chinese family[J].Hemoglobin,2017,41(1):68-72.
[12]FARASHI S,HARTEVELD C L.Molecular basis ofα-thalassemia[J].Blood Cells Mol Dis,2018(70):43-53.
[2] MARTIN A,THOMPSON A A.Thalassemias[J].Pediatr Clin North Am,2013,60(6):1383-1391.
[3] WICHIAN P,YAMSRI S,SANCHAISURIYA K,et al.Whole Blood PCR for Rapid Screening of alpha(0)-Thalassemia[J].Ann Clin Lab Sci,2018,48(2):231-235.
[4] LIN M,ZHU J J,WANG Q,et al.Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese[J].Blood Cells Mol Dis,2012,48(2):86-90.
[5] MAHDIEH N,RABBANI B.Beta thalassemia in 31 734cases with HBB gene mutations:pathogenic and structural analysisofthecommonmutations;Iran as the crossroads of the Middle East[J].Blood reviews,2016,30(6):493-508.
[6]陈敬林,万志丹,黄湘,等.中山市大规模人群地中海贫血基因型调查[J].中国卫生检验杂志,2015,25(14):2419-2421.
[7]徐卫华,陈鑫苹,李晓娟,等.海南地区地中海贫血基因分型及频率的研究[J].中国热带医学,2013,13(7):804-806.
[8] HE X,SHENG M,XU M,et al.Rapid identification of common beta-thalassemia mutations in the Chinese population using duplex or triplex amplicon genotyping by high-resolution melting analysis[J].Genet Test Mol Biomarkers,2010,14(6):851-856.
[9] VAN DER PADT A,BOUVA M,AUWERDA J J,et al.Adult onset of a thalassemia intermedia genotype in association with A-alpha-(3.7)homozygosity.Hb G-accra{beta 73(E17)Asp-> Asn}in combination with betaand alpha-thalassemia in the same family[J].Hemoglobin,2005,29(4):269-276.
[10]COX S,KUJAK J,PRINCENTHAL R,et al.Skeletal and extraskeletal manifestations of mixed alpha and beta thalassemia[J].Radiol Case Rep,2012,7(3):524.
[11]HE S,QIN Q,LIN L,et al.Complex interaction of Hb QThailand with alpha(0)-and beta(0)-thalassemia in a Chinese family[J].Hemoglobin,2017,41(1):68-72.
[12]FARASHI S,HARTEVELD C L.Molecular basis ofα-thalassemia[J].Blood Cells Mol Dis,2018(70):43-53.