珠海地区635例地中海贫血基因检测结果分析

Analysis of gene detection results of 635 thalassemia cases in Zhuhai area

目的研究珠海地区地中海贫血的发生率、基因突变类型和构成比。方法α基因变异用聚合酶链式反应(PCR)法检测3种常见基因缺失(--SEA、-α4.2、-α3.7),β基因变异用反向点杂交法检测17种常见突变位点(β0包括Int,CD41-42,CD31,CD14-15,CD17,CD71-72,IVS-Ⅰ-1,CD43,CD27/28;β+包括IVS-Ⅱ-654,-28,-29,-30,-32,CAP,IVS-Ⅰ-5,βE)。结果 635例送检个体中,地中海基因变异总检出率为49.76%(316/635),其中α地中海贫血基因缺失阳性率为30.87%(196/635),β地中海贫血基因突变阳性率为15.91%(101/635),αβ复合型地中海贫血基因突变阳性率为2.99%(19/635)。结论研究珠海地区地中海贫血的发生率、基因突变类型和构成比,为遗传咨询和婚育指导提供了有价值的基础资料。

Objective To research incidence, gene mutation type and constituent ratio of thalassemia. Methods Polymerase chain reaction method was applied to detect 3 common gene deletions in α gene mutation（--SEA,-α4.2,-α3.7）, and reverse dot blot method was applied to detect 17 common mutation sites in β gene mutation（β0 included Int, CD41-42, CD31, CD14-15, CD17, CD71-72, IVS-Ⅰ-1, CD43, CD27/28; β＋ included IVS-Ⅱ-654,-28,-29,-30,-32, CAP, IVS-Ⅰ-5, βE）. Results In the 635 detected cases, the total detect rate of Mediterranean gene mutation was 49.76%（316/635）. Positive rate of α thalassemia gene deletion was 30.87%（196/635）, positive rate of β thalassemia gene mutation was 15.91%（101/635）, and positive rate of αβ combined thalassemia gene mutation was 2.99%（19/635）. Conclusion This research of incidence, gene mutation type and constituent ratio of thalassemia in Zhuhai area provides valuable basic value for genetic counseling, marital and fertility instructions.