摘要
目的探讨深圳光明2633例β珠蛋白生成障碍性贫血患者的基因检测结果。方法随机选取本院接收的2633例受检人员,所选人员均接受基因检测,分析检测结果、基因类型及城镇分布状况。结果2633例受检人员中,总计516例症状β珠蛋白生成障碍性贫血,检出率19.38%;516例患者基因分型以CD41-42/N、IVS-Ⅱ-654/N、CD17/N为主,占比分别是37.98%、21.51%、17.44%;516例患者中,男、女分别有120例和396例,平均年龄分别是(36.0±1.1)岁和(36.2±1.2)岁,男与女年龄比较,差异无统计学意义(P>0.05);其中城镇地区、农村地区无症状β珠蛋白生成障碍性贫血患者检出率,两者比较,差异明显,具有统计学意义(P<0.05)。结论深圳光明地区无症状β珠蛋白生成障碍性贫血基因主要包括CD41-42/N、IVS-Ⅱ-654/N、CD17/N等类型,应加强对本地区孕前夫妇的基因型检测、该病防治的宣传与教育,减少此类患儿出生,以优化人口素质。
Objective To investigate the genetic test results of 2633 cases of guangming in shenzhen.Methods A total of 2633 patients were randomly selected from our hospital,all of whom received genetic testing,and the test results,gene types and town distribution were analyzed.Results Of the 2633 patients,a total of 516 had symptoms of haemoglobin anemia,with a detection rate of 19.38%.Genotyping in 516 patients with CD41-42/N,IVS-Ⅱ-654/N,CD17/N is given priority to,is 37.98%,21.51%,17.44%.Among the 516 patients,there were 120 males and 396 females,with an average age of(36.0±1.1)years and(36.2±1.2)years,respectively.Among them,the detection rates of asymptomatic patients with hab in urban areas and rural areas were 14.14%and 18.00%,respectively.Conclusion Shenzhen in asymptomatic beta globin produce light barrier anemia genes including CD41-42/N,IVS-Ⅱ-654/N,CD17/Ntype,should strengthen the region before the couple’s genotype testing,the disease prevention and control publicity and education,reduce the child was born,to optimize the quality of the population.
作者
殷俊
苏钏
彭洁
YIN Jun;SU Chuan;PENG Jie(University of Chinese academy of sciences shenzhen hospital,medical laboratory,Shenzhen,Guangdong 518107)
出处
《智慧健康》
2020年第13期7-9,18,共4页
Smart Healthcare
