中国实用医药
中國實用醫藥
중국실용의약
CHINA PRACTICAL MEDICAL
2015年
25期
17-18,19
,共3页
地中海贫血%小细胞低色素%基因型
地中海貧血%小細胞低色素%基因型
지중해빈혈%소세포저색소%기인형
Thalassemia%Microcytic hypochromic anemia%Genetype
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。
目的：研究珠海地區地中海貧血的髮生率、基因突變類型和構成比。方法α基因變異用聚閤酶鏈式反應(PCR)法檢測3種常見基因缺失(--SEA、-α4.2、-α3.7),β基因變異用反嚮點雜交法檢測17種常見突變位點(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 )。結果635例送檢箇體中,地中海基因變異總檢齣率為49.76%(316/635),其中α地中海貧血基因缺失暘性率為30.87%(196/635),β地中海貧血基因突變暘性率為15.91%(101/635),αβ複閤型地中海貧血基因突變暘性率為2.99%(19/635)。結論研究珠海地區地中海貧血的髮生率、基因突變類型和構成比,為遺傳咨詢和婚育指導提供瞭有價值的基礎資料。
목적：연구주해지구지중해빈혈적발생솔、기인돌변류형화구성비。방법α기인변이용취합매련식반응(PCR)법검측3충상견기인결실(--SEA、-α4.2、-α3.7),β기인변이용반향점잡교법검측17충상견돌변위점(β0포괄Int, CD41-42, CD31, CD14-15, CD17, CD71-72, IVS-Ⅰ-1, CD43, CD27/28；β+포괄IVS-Ⅱ-654,-28,-29,-30,-32, CAP, IVS-Ⅰ-5,βE )。결과635례송검개체중,지중해기인변이총검출솔위49.76%(316/635),기중α지중해빈혈기인결실양성솔위30.87%(196/635),β지중해빈혈기인돌변양성솔위15.91%(101/635),αβ복합형지중해빈혈기인돌변양성솔위2.99%(19/635)。결론연구주해지구지중해빈혈적발생솔、기인돌변류형화구성비,위유전자순화혼육지도제공료유개치적기출자료。
ObjectiveTo research incidence, gene mutation type and constituent ratio of thalassemia. MethodsPolymerase 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).ResultsIn 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.
