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目的:了解广西地区地中海贫血(地贫)的基因突变类型和分布情况。方法:2012-03-2014-11到我单位进行地贫基因检查的患者,用PCR结合琼脂糖凝胶电泳技术检测缺失型α地贫基因,PCR结合膜反向杂交技术检测β地贫基因。结果:13 589例样本共检出α、β地贫2 866例,比例为21.09%。其中缺失型α地贫1 757例(12.93%),常见缺失型α地贫基因型为--SEA/αα(1 026例),-α3.7/αα(498例),-α4.2/αα(150例),构成比分别为58.39%、28.34%、8.54%,共95.27%,其中以--SEA/αα最为常见;其他基因型包括--SEA/-α3.7、--SEA/-α4.2、-α3.7/-α3.7、-α3.7/-α4.2,构成比分别为2.90%、1.25%、0.40%、0.17%。确定为β地贫共1 109例(8.16%),共计发现基因型23种,其中最常见的突变类型分别为CD41-42(-TCTT)、CD17(A→T)、IVS-2-654(C→T)、-28(A→G)、CD71-72(+A)、βE、-29(A→G),共占95.94%,其中以CD41-42(-TCTT)位点突变所占比例最高。α地贫兼β地贫98例。结论:广西地区α地贫以--SEA/αα最为常见,β地贫以CD41-42(-TCTT)最为常见,α地贫发病率高于β地贫。广西是地贫高发区域,继续做好广西人群的地贫筛查和产前基因诊断对优生优育具有重要作用。
Objective: To understand the types and distribution of genetic mutations in thalassemia (thalassemia) in Guangxi area. Methods: 2012-03-2014-11 To my unit for thalassemia genetic testing, detection of deletional α-thalassemia gene by PCR combined with agarose gel electrophoresis and detection of β-thalassemia gene by PCR-coupled membrane reverse hybridization. Results: There were 2 866 cases of α, β thalassemia in 13 589 samples, accounting for 21.09%. Among them, 1 757 cases (12.93%) had deletional alpha thalassemia, and the common deletional alpha thalassemia genotypes were --SEA / alpha alpha (1026), alpha3.7 / alpha alpha (498) αA (150 cases), the proportions were 58.39%, 28.34%, 8.54% and 95.27%, respectively. Among them, the most common was --SEA / αα; the other genotypes included --SEA / -α3.7, -α4.2, -α3.7 / -α3.7, -α3.7 / -α4.2, the constituent ratios were 2.90%, 1.25%, 0.40% and 0.17%, respectively. A total of 1 109 cases (8.16%) were confirmed as β-thalassemia. A total of 23 genotypes were found. The most common mutations were CD41-42 (-TCTT), CD17 (A → T), IVS- 2-654 C → T), -28 (A → G), CD71-72 (+ A), βE, -29 (A → G), accounting for 95.94% of the total, of which CD41-42 (-TCTT) The highest proportion. α thalassemia and β thalassemia 98 cases. CONCLUSION: The most common type of thalassemia - SEA / αα in Guangxi is the most common. The prevalence of thalassemia inter alia, CD41-42 (-TCTT) is most common, and the incidence of thalassemia is higher than that of β thalassemia. Guangxi is a high incidence of poverty-stricken areas. To continue the screening of the thalassemia population and genetic diagnosis of prenatal diagnosis of Guangxi population plays an important role in prenatal and postnatal care.