四川泸州地区228例0～18岁地中海贫血患儿基因类型分析

发布时间：2018-03-24 07:42

本文选题：地中海贫血　切入点：基因型　出处：《现代预防医学》2017年07期

【摘要】：目的探讨四川泸州地区228例0~18岁α和β地中海贫血患儿基因突变类型及频率。方法对2013年1月至2015年12月382例0~18岁疑诊地中海贫血的患儿行GAP-PCR技术和RDB-PCR技术检测α、β地中海贫血基因。结果共检测出228例地中海贫血患儿,α-地中海贫血39人,阳性率10.21%,β-地中海贫血189人,阳性率49.47%,其中α-地中海贫血检出基因突变类型3种,基因型5种,以αα/--~(SEA)最高,β-地中海贫血检出8种基因突变类型,13种基因型,前3种依次为CD17(A-T)(44.04%)、CD41-42(-TCTT)(25.39%)、IVS-II-654(C-T)(21.76%)。结论四川泸州地区α地中海贫血基因突变以αα/--~(SEA)为主,β地中海贫血基因突变类型以CD17(A-T)最为常见。据此制订地中海贫血防控策略,将有助于降低其发生率。
[Abstract]:Objective to investigate the type and frequency of gene mutation in 228 children with 伪 and 尾 thalassemia aged 0 to 18 years in Luzhou, Sichuan Province. Methods GAP-PCR and RDB-PCR techniques were used to detect 382 children with suspected thalassemia aged 0 to 18 years from January 2013 to December 2015. Results A total of 228 children with thalassemia were detected, 39 of them were 伪 -thalassemia. The positive rate of 尾 -thalassemia was 10.21. The positive rate of 尾 -thalassemia was 49.47. Among them, 3 types of gene mutations and 5 genotypes were detected in 伪 -thalassemia, the highest in 伪伪 / 尾 -thalassemia, and 13 genotypes were detected in 尾 -thalassemia. CD41-42TCTT was 25.39. Conclusion the mutation of 伪 -thalassemia gene in Luzhou area of Sichuan Province is mainly 伪伪 -p-SEAA, and the most common mutation type of 尾 -thalassemia gene is CD17A- T. The strategy of prevention and control of thalassemia will be helpful to reduce the incidence of thalassemia in Luzhou, Sichuan province, and the most common mutation type of 尾 -thalassemia gene mutation is CD17A- T4. The strategy of prevention and control of thalassemia will be helpful to reduce the incidence of thalassemia in Luzhou area, Sichuan Province, and the most common mutation type of 尾 -thalassemia gene mutation is CD17A- T.
【作者单位】：四川省泸州市西南医科大学附属医院儿科;四川省泸州市西南医科大学附属医院检验科;
【分类号】：R725.5

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