β地中海贫血的基因诊断及两种试剂比较  

β-thalassemia genotyping and comparison of two diagnostic reagent

作　　者：杨光[1] 崔金环[1] 区丽群[1] 肖平[1] 禤洁甜[1] 汤丽霞[1] 

机构地区：[1]佛山市第一人民医院临床医学研究所,528000

出　　处：《中国优生与遗传杂志》2005年第11期44-45,15,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 评价基因诊断在β地中海贫血(β地贫)诊断中的作用,比较不同厂家β地贫基因诊断试剂的临床应用效 果。方法 采用两种β地贫基因诊断试剂分别对包括周围静脉血、脐血和羊水在内的300份标本分别进行基因诊断,比较两 种试剂操作的繁简性和临床诊断符合率。结果 两试剂操作步骤大致相同,均可对血液以外的样本如羊水等进行β地贫诊 断,均可检测17个突变位点,占β地贫突变发生率的99％以上;与临床诊断结果比较,阳性符合率均在99％左右,阴性符合率 均为100％,差异无显著性。结论 基因诊断对样本的适用范围较广,对β地贫有确诊和分型意义,并有利于产前诊断,具有 准确、敏感、特异、简便等优点,但对17个突变位点以外的稀少类型β地贫仍可能出现漏诊。Objective：To evaluate β- thalassemia genotyping method, and compare the effect of different genotyping kits. Methods： 300 samples including peripheral vein blood, cord blood and amniotic fluid were analyzed by two different β - thalassemia genotyping kits. Practicability of manipulation and agreement to clinical diagnosis of the genotyping kits were appraised. Results： The operative process of two kits was alike, they can detect out 17 types of β - thal assemia mutation,which are over 99% of β - thalassemia mutation. Compared to the results of clinical diagnosis, the percent of positive agreement of the two reagents were about 99% , beth of the percem of negative agreement were 100%, the different was not significant. Conclusion： β- thalassemia genotyping is a simple and accurate method with high sensitivity and speciality, which could be applied to diagnose of β- thalassemia in different samples and to genotype the mutation and suitable to apply to before - bern diagnosis. But rare mutation beyond the 17 genotypes may be missed.

关 键 词：Β地中海贫血 诊断 基因分型 试剂 

分 类 号：R556[医药卫生—血液循环系统疾病]