CAJ | 학술논문

目的：了解重庆地区地中海贫血患者基因突变类型及分布，以指导优生优育。方法采用聚合酶链式反应（PCR）和膜杂交术，进行α-地中海贫血和β-地中海贫血基因检测。结果2012年9月至2013年9月共检出349例地中海贫血患者，其中α-地中海贫血患者125例，α-地中海贫血患者的基因突变类型以缺失为主，缺失类型主要为东南亚型缺失--SEA/αα（占73．60％）和右侧缺失-3．7/αα（占19．20％）。检出β-地中海贫血患者211例，基因突变热点分别为CD17（A → T ）（29．38％）、CD41-42（-TCTT）（28．91％）、IVS-Ⅱ-654（C→T）（27．49％）。α-地中海贫血兼β-地中海贫血13例。结论了解重庆地区地中海贫血基因突变类型及分布可以为该地区地中海贫血的遗传咨询和临床诊疗提供有价值的信息。
목적：료해중경지구지중해빈혈환자기인돌변류형급분포，이지도우생우육。방법채용취합매련식반응（PCR）화막잡교술，진행α-지중해빈혈화β-지중해빈혈기인검측。결과2012년9월지2013년9월공검출349례지중해빈혈환자，기중α-지중해빈혈환자125례，α-지중해빈혈환자적기인돌변류형이결실위주，결실류형주요위동남아형결실--SEA/αα（점73．60％）화우측결실-3．7/αα（점19．20％）。검출β-지중해빈혈환자211례，기인돌변열점분별위CD17（A → T ）（29．38％）、CD41-42（-TCTT）（28．91％）、IVS-Ⅱ-654（C→T）（27．49％）。α-지중해빈혈겸β-지중해빈혈13례。결론료해중경지구지중해빈혈기인돌변류형급분포가이위해지구지중해빈혈적유전자순화림상진료제공유개치적신식。
Objective To investigate the type of gene mutation and its distribution in patients with thalassemia in Chongqing ,in order to guide prenatal and postnatal care .Methods PCR and membrane hybridization technology for α-thalassemia andβ-thalasse-mia gene detection .Results From September 2012 to September 2013 ,349 thalassemia patients were detected ,including 125 α-thalassemia patients and 211β-thalassemia patients .Based on genotypes ,gene deletions were the most common type of gene muta-tion of α-thalassemia patients .Southeast Asia deletion - -SEA/αα(accounted for 73 .60 % ) and the right deletion -3 .7/αα(ac-counted for 19 .20% ) were the major types of gene deletion .Forβ-thalassemia patinets ,the hot spots of mutation were CD17(A→T) ,CD41-42(-TCTT) and IVS-Ⅱ-654(C→ T) ,which accounted for 29 .38% ,28 .91% and 27 .49% respectively .α-thalassemia combined with β-thalassemia mutations were detected in 13 patients .Conclusion Studing the gene mutation types of thalassemia and its distribution provides valuable information for genetic counseling and clinical therapy in Chongqing .