CAJ | 학술논문

目的：通过研究深圳市盐田区户籍人口珠蛋白生成障碍性贫血基因型及人群携带率，为开展深圳盐田区地中海贫血的遗传咨询、产前诊断和预防计划提供科学依据。方法抽取3 mL EDTA-K2抗凝血进行全血细胞分析，以平均红细胞体积（MCV）＜80 fL 作为初筛试验，初筛后可疑病例进行 DNA 提取后用于基因检测。其中α-地中海贫血基因检测使用4对 PCR 引物，在同一反应体系进行扩增，琼脂糖凝胶电泳鉴定，根据条带分析结果。β-地中海贫血基因型检测，采用 PCR 产物测序进行分析。结果初筛后可疑病例4657例全部进行基因检测，检出地中海贫血基因携带者510例，地中海贫血基因携带率10．95％；其中α-地中海贫血基因携带者389例，携带率8．35％，以α-3．7、α-4．2、α-SEA，为主；β-地中海贫血基因携带者121例，携带率2．59％，以 CD41/42、LVS-Ⅱ-654、box-28、CD17、CD71为主。结论盐田区户籍人口珠蛋白生成障碍性贫血基因携带率与省内其他地区基本接近，检测出的8种地中海贫血基因类型均为常见类型。
목적：통과연구심수시염전구호적인구주단백생성장애성빈혈기인형급인군휴대솔，위개전심수염전구지중해빈혈적유전자순、산전진단화예방계화제공과학의거。방법추취3 mL EDTA-K2항응혈진행전혈세포분석，이평균홍세포체적（MCV）＜80 fL 작위초사시험，초사후가의병례진행 DNA 제취후용우기인검측。기중α-지중해빈혈기인검측사용4대 PCR 인물，재동일반응체계진행확증，경지당응효전영감정，근거조대분석결과。β-지중해빈혈기인형검측，채용 PCR 산물측서진행분석。결과초사후가의병례4657례전부진행기인검측，검출지중해빈혈기인휴대자510례，지중해빈혈기인휴대솔10．95％；기중α-지중해빈혈기인휴대자389례，휴대솔8．35％，이α-3．7、α-4．2、α-SEA，위주；β-지중해빈혈기인휴대자121례，휴대솔2．59％，이 CD41/42、LVS-Ⅱ-654、box-28、CD17、CD71위주。결론염전구호적인구주단백생성장애성빈혈기인휴대솔여성내기타지구기본접근，검측출적8충지중해빈혈기인류형균위상견류형。
Objective To investigate the carrying rate and genotype of thalassemia in the household population of Yantian dis-trict in Shenzhen city so as to provide the scientific basis for Thalassemia genetic counseling,prenatal diagnosis and prevention plan. Methods 3 mL of anticoagulation blood by EDTA-K2 was extract for conducting the whole blood cells analysis.With the mean cor-puscular volume(MCV)<80 fL as the preliminary screening test,then the suspected cases were performed the DNA extraction for conducting the gene test.In theα-thalassemia detection,4 pairs of PCR primer were used to amplify in the same reaction system and the results were analyzed according to the band after the agarose gel electrophoresis.In theβ-thalassemia detection,the PCR product sequencing was adopted.Results After the preliminary screening,4 657 suspected cases all were performed the gene detection.510 carriers with thalassemia gene were detected out with the thalassemia gene carrying rate of 10.95%,including 389 cases carryingα-thalassemia gene with the carrying rate of 8.35%,which was dominated by α-3.7,α-4.2 and α-SEA,and 121 cases carrying βthalassemia gene with the carrying rate of 2.59%,which was dominated by CD41.42,LVS-Ⅱ-654,CD17 and CD71.Conclusion The carrying rate of thalassemia gene in the household population of Yantian district was 10.95%,which is closed to that in other districts within Guangdong province,all of the 8 detected genotypes of thalassemia are the common types.