CAJ | 학술논문

目的用液态基因芯片技术检测深圳东部地区人群中β-地中海贫血分析常见类型.方法采用液态基因芯片技术,使用Luminex100多功能悬浮点阵检测仪及Lumi2 nex Data Collector vision1.7数据收集软件检测并通过突变标本与正常标本的莹光强度比值(Mutan/Normal)分析深圳东部地区人群5 637例标本.结果发现132例携带β-地中海贫血突变基因,携带率为2.34%.其中常见点突变模式中CD41/42(TCTT)突变61例(占46.2%),IVS2-654(C→T)29例(21.9%),-25(A→G)突变14例(10.6%),-13(A→T)突变11例(8.3%),CD71/72(+A)5例(3.8%),-29(A→G)突变杂合3例(2.27%),-28(A→G)复合CD41/42-TCTT突变7例,其他少见杂合点突变2例,常见单点突变β-地中海贫血患者共123例为93.18%,少见模式和多点杂合突变共9例,为6.82%.
목적 용액태기인심편기술검측심수동부지구인군중β-지중해빈혈분석상견류형.방법 채용액태기인심편기술,사용Luminex100다공능현부점진검측의급Lumi2 nex Data Collector vision1.7수거수집연건검측병통과돌변표본여정상표본적형광강도비치(Mutan/Normal)분석심수동부지구인군5 637례표본.결과 발현132례휴대β-지중해빈혈돌변기인,휴대솔위2.34%.기중상견점돌변모식중CD41/42(TCTT)돌변61례(점46.2%),IVS2-654(C→T)29례(21.9%),-25(A→G)돌변14례(10.6%),-13(A→T)돌변11례(8.3%),CD71/72(+A)5례(3.8%),-29(A→G)돌변잡합3례(2.27%),-28(A→G)복합CD41/42-TCTT돌변7례,기타소견잡합점돌변2례,상견단점돌변β-지중해빈혈환자공123례위93.18%,소견모식화다점잡합돌변공9례,위6.82%.
Objective By applying liquid gene chip technology, we tried to investigate the common types of β-thalassemia in Shenzhen eastern area. Methods Liquid gene chip technology, multifunction Luminex100 suspension array detector and Lumi2 nex Data Collector vision1.7data collection sofeware were applied to testing 5 637 samples from Shenzhen eastern crowd via Mutan/Normal fluorescent intensity ratio. Results A total of 132 cases (132/5 637, 2.34%) were found to carry common β-thalassemia mutation gene: CD41/42 (TCTT) mutation in 61cases (46.2%); IVS2-654 (C→T) in 29 cases (21.9%); -25 (A→G) mutation in 14 cases (10.6%) ; -13 (A→T) mutation in 11 cases (8.3%) ; CD71/72 (+A) in 5 cases (3.8%) ; -29 (A→G) mutant hybrid in 3 cases (2.27%) ; -28 (A→G) composite CD41/42-TCTT mutation in 7 cases. Other rare heterozygous point mutation was found in 2 cases; and a single point mutation existed in 123 cases (93.18%) of complex β-thalassemia, rare modes and multi-point heterozygous mutations were 9 cases (6.82%). Conclusion Liquid gene chip technology contributes to gene analysis ofβ-thalassemia.