泉州地区α和β地中海贫血基因突变类型分析

发布时间：2019-02-22 13:38

【摘要】：目的分析泉州地区α和β地中海贫血的基因突变类型及频率,为泉州地区的地中海贫血筛查及诊断提供参考数据。方法用反向点杂交(RDB)-聚合酶链反应(PCR)诊断α和β地中海贫血基因点突变,用跨越断裂点(Gap)-PCR检测α地中海贫血基因缺失,对于怀疑有罕见地中海贫血突变基因的样本进行测序确认。结果 1 121例样本中检出195例β地中海贫血,阳性率为17.40%,IVS-2-654(C→T)杂合和CD41-42(-TCTT)杂合最常见,占β全部基因突变的67.18%(131/195);325例为α地中海贫血,阳性率为28.99%,最常见的是--SEA/αα,占α全部基因突变的77.23%(251/325)。同时,发现1例罕见的--Thai/αα、1例α-anti4.2、1例Hb G-Chinese复合Hb Westmead突变。结论泉州地区具有较高的地中海贫血基因携带率,而且基因突变类型较为复杂,广泛地开展地中海贫血的筛查及产前诊断具有重要意义。
[Abstract]:Objective to analyze the type and frequency of gene mutation of 伪 and 尾 thalassemia in Quanzhou area, and to provide reference data for screening and diagnosis of thalassemia in Quanzhou area. Methods the point mutations of 伪 and 尾 thalassemia genes were diagnosed by reverse dot hybridization (RDB) polymerase chain reaction (PCR), and 伪 -thalassemia gene deletion was detected by crossing the break point (Gap) PCR. Samples suspected of having a rare thalassemia mutation were sequenced. Results among 1 121 samples, 195 尾 thalassemia cases were detected. The positive rate was 17.40IVS-2-654 (C-T) heterozygosity and CD41-42 (- TCTT) heterozygosity, accounting for 67.18% (131 / 195) of all 尾 gene mutations. The positive rate of 伪 -thalassemia was 28.99%. The most common one was SEA/ 伪, which accounted for 77.23% (251,325) of all 伪 gene mutations. At the same time, a rare case of Thai/ 伪 and a case of 伪 anti4.2,1 with Hb G-Chinese complex Hb Westmead mutation were found. Conclusion Quanzhou has a high gene carrying rate of thalassemia, and the type of gene mutation is more complex, so it is important to develop screening and prenatal diagnosis of thalassemia extensively.
【作者单位】：泉州市妇幼保健院·儿童医院产前诊断中心;
【分类号】：R556.61;R440

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