中国福建省龙岩地区地中海贫血基因突变类型的分析

发布时间：2018-11-21 19:17

【摘要】：目的:了解中国福建省龙岩地区α、β地中海贫血的基因突变类型及其分布特征,为本地区地中海贫血产前咨询和产前诊断提供依据,减少出生缺陷。方法:采用平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和血红蛋白电泳进行筛查,阳性者采用跨越断裂点PCR(gap-PCR)技术和DNA反向点杂交芯片技术(reverse dot blot,RDB)进行基因分型检测。结果:7823例血常规阳性受检者中,经血红蛋白电泳筛查初筛阳性2826例,阳性率为36.12%;对其中2710例进行了α、β地中海贫血基因诊断,1905例被确诊为地中海贫血,检出携带率为24.35%。在1905例中α-地中海贫血1225例,携带率为15.66%,基因型主要是—~(SEA)/αα、-α~(3.7)/αα、-α~(3.7)/—~(SEA)、-α~(4.2)/αα,携带率分别为12.91%、1.28%、0.51%、0.74%;β-地中海贫血632例,其携带率为8.08%,基因型主要为654M/N、41-42M/N、17M/N、-28M/N、27-28M/N,携带率分别为3.66%、2.22%、0.78%、0.66%、0.45%;α-地中海贫血复合β-地中海贫血检出48例,携带率为0.61%。结论:中国福建省龙岩地区α、β地中海贫血基因主要突变类型分别为—~(SEA)/αα、654M/N,其在本地区携带率较高,为福建省的地中海贫血高发区,应加强对本地区育龄人群的地中海贫血的筛查和产前的基因诊断工作,以避免重型地中海贫血患儿出生
[Abstract]:Objective: to investigate the gene mutation types and distribution characteristics of 伪, 尾 thalassemia in Longyan area, Fujian Province, China, so as to provide basis for prenatal consultation and prenatal diagnosis of thalassemia and to reduce birth defects. Methods: the mean erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin electrophoresis were screened. The positive patients were screened by PCR (gap-PCR) technique and DNA reverse dot hybridization technique (reverse dot blot,). RDB was used for genotyping. Results: of the 7823 patients with positive blood routine examination, 2826 were screened positive by hemoglobin electrophoresis, the positive rate was 36.12%. Among them, 2710 cases were diagnosed with 伪, 尾 thalassemia gene, 1905 cases were diagnosed as thalassemia, the detection rate was 24.35%. Among the 1905 cases, 1225 cases were 伪 -thalassemia, the carrying rate was 15.66B. the genotypes were mainly-(SEA) / 伪,-伪 ~ (3.7) / 伪,-伪 ~ (3.7) /-(SEA),-伪 ~ (4.2) / 伪, and the main genotypes were-伪 ~ (3. 7) / 伪 ~ (3. 7) /-~ (SEA),-伪 ~ (4.2) / 伪. The carrying rates were 12.91% and 1.28%, 0.51% and 0.74%, respectively. There were 632 cases of 尾 -thalassemia with a carrying rate of 8.08, and the main genotype was 654m / 42M / N 41-42M / N 17M / N = -28M / N = 27-28M / N, and the carrying rate was 3.662.222.220.78 / 0.66, respectively. 0.45; 48 cases of 伪 -thalassemia and 尾 -thalassemia were detected, the carrying rate was 0.61g. Conclusion: the major mutation types of 伪 and 尾 thalassemia gene in Longyan area of Fujian Province are-~ (SEA) / 伪, 654 M / N, respectively, and its carrying rate is high in this area, which is the high incidence area of thalassemia in Fujian Province. Screening and prenatal genetic diagnosis of thalassemia among children of childbearing age in the region should be strengthened in order to avoid the birth of children with severe thalassemia
【作者单位】：福建医科大学附属龙岩第一医院中心实验室福建省龙岩市第一医院中心实验室;长沙医学院;
【分类号】：R556.61

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