Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region
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Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region
Journal of Chongqing Medical UniversityVol. 38, Issue 5, Pages: 694-697(2014)
作者机构:
1. 重庆医科大学附属第二医院分子生物学实验室,重庆,400010
2. 重庆金域医学检验所,重庆,400000
3. 重庆医科大学附属第二医院产科,重庆,400010
4. 重庆医科大学附属第二医院血液科,重庆,400010
5. 重庆医科大学附属第一医院药学部,重庆,400016
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Published:2014,
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Du Wei, Ouyang Xiaofeng, GAN Chengwen, et al. Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region. [J]. Journal of Chongqing Medical University 38(5):694-697(2014)
DOI:
Du Wei, Ouyang Xiaofeng, GAN Chengwen, et al. Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region. [J]. Journal of Chongqing Medical University 38(5):694-697(2014)DOI:
Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region
Objective:To investigate the distribution of α-& β-thalassemia in Chongqing. Methods:Totally 8 024 samples from district and counties of Chongqing were detected for α-& β-thalassemia genotype using gap single polymerase chain reaction(GSPCR) com-bined with reverse dot blot hybridization(RDB). Before the detection,red peripheral blood cell(RBC),hemoglobin(HB),mean cor-puscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC),hemoglobin elec-trophoresis index in each set of sample were screened. In the 8 024 samples,1 267 were male and 6 757 were female. The sample aged from 0-91 years old and were divided into chil-dren group(0-16 years old,317 cases),adult group(17-49 years old,7 572 cases) and seniors group(50-91 years old,155 cases). Results:1 117 cases of α- and β-thalassamia were detected out from the 802 4 cases,accounting for 13.92%. Among the 1 117 cases,479 were α-thalassamia. The most common mutations were as follows:--SEA/αα(332 cases),-α3.7/αα(84 cases) and -α4.2/αα(15 cases),accounting for 89.98%,69.31%,17.54% and 3.13% respectively. Deletion a-thalassaemia was the domain type,5 cases of --SEA/-α3.7 and 1 cases of --SEA/-α4.2. There were 42 cases of non-deletional alpha-thalassaemi,accounting for 8.76%. 619 cases were surly diagnosed as β-thalassamia and 19 cases were α-thalassemia composite β-thalassamia. 12 β-thalassamia genotypes were found,and the common constitutions of mutation were CD17(A→T)(the most common constitution),CD41—42(-TCTT),IVS-2-654(C→T),CD43,TATAboxnt -28(A→T),βE,accounting for 96.12%. There was 1 case CAP and 1 case IVS1-1. Among the 8 024 cases,167 male cases and female 950 cases were diagnosed as α-& β-thalassemia including 77 male cases and 402 female cases of α-tha-lassemia as well as 74 male cases and 545 female cases of β-thalassemia. The positive rate of α-& β-thalassemia was higher in fe-male than in male,but having no statistical significance( χ2=0.691,P=0.433). There was no statistical significance in detection rate of α-& β-thalassemia between male and female( χ2=0.381,P=0.604). Among all samples,317(33.75%) cases in children group,982(13.00%) cases in adult group and 155(18.06%) cases in senior group were diagnosed as thalassemia( χ2=1.711,P=0.318),without statistical differences. Conclusions:--SEA/αα genotype and CD17(A→T) gene mutation is the most common type in α-thalassemia and β-thalassemia in Chongqing. However,the significant hazard in adult group concentrates in the breeding age. Thus to screen tha-lassemia genotype of adult in breeding age is of great significance in raising population quality.
关键词
地中海贫血α地中海贫血β地中海贫血单管多重聚合酶链反应重庆
Keywords
thalassemiaα-thalassemia genotypeβ-thalassemia genotypegap single polymeras chain reactionChongqing
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