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目的:对西双版纳州勐海县学龄前儿童进行地中海贫血的流行病学调查和基因单倍型分析。方法:勐海县妇幼保健院体检的儿童应用血红蛋白电泳联合血常规筛查地贫,同时对所有病例进行α-地贫、β-地贫基因检测。应用连锁分析和限制性内切酶片段长度多态性方法分析当地地贫人群的基因单倍型。结果:在103名受检的学龄前儿童中,确诊α-地贫者14例,β-地贫9例,α-地贫复合β-地贫2例,α-地贫基因携带率15.5%,β-地贫基因携带率12.6%。检出5种与地贫相关的基因单倍型。结论:西双版纳州勐海县是地贫高发地区,研究结果有助于当地地贫防控有效开展。
Objective: To carry out epidemiological investigation and gene haplotype analysis of thalassemia in preschool children in Menghai County, Xishuangbanna Prefecture. Methods: Children’s health examination in Menghai County was performed hemoglobin electrophoresis combined with blood routine screening for thalassemia. At the same time, a-thalassemia and β-thalassemia genes were detected in all cases. Linkage analysis and restriction fragment length polymorphism were used to analyze the haplotypes of the local poor population. Results: Of the 103 pre-school children examined, 14 cases of α-thalassemia, 9 cases of β-thalassemia, 2 cases of α-thalassemia β-thalassemia, and 15.5% , β-thalassemia carrier rate of 12.6%. Five haplotypes associated with thalassemia were detected. Conclusion: Menghai County, Xishuangbanna Prefecture is a high prevalence area of thalassemia. The results of this study contribute to the effective prevention and control of local thalassemia.