摘要
目的运用基因诊断技术检测患者珠蛋白生成障碍性贫血(简称地贫)基因,了解主要的基因突变类型及其频率。方法以2010年1月至2014年10月就诊于惠州市中心人民医院血液科(门诊和体检)的5 500例患者为研究对象,采用跨越断裂点的PCR(GAP-PCR)技术及膜反向杂交技术分别对α-和β-地贫进行基因分析。结果检出α-地贫基因改变1 604例,占29.16%;检出β-地贫基因改变1 096例,占19.93%,检出αβ-复合型地贫患者119例。结论α-和β-地贫的基因筛查为婚育指导提供了有价值的基础资料。
Objective To use the genetic diagnosis technique to perform the gene detection in the patients with thalassemia for understanding the main gene mutation types and their gene frequencies. Methods Totally 5 500 outpatients and individuals un- dergoing physical examination in the hematology department of the Huizhou Municipal Central Peoplers Hospital from January 2010 to October 2014 were taken as the research subjects. The GAP-PCR and membrane reverse hypridition technology were adopted to conduct the gene analysis of α- and β- thalassemia. Results A total of 1 604 cases of α-globin gene change were detected,accounting for 29.16 % of the total detected subjects;1 096 cases of β-globin gene change were detected, accounting for 19.93 % of the total de- tected subjects;ll9 cases of αβ-complex thalassemia were detected. Conclusion The gene screening of α- and β- thalassemia pro- vides the valuable basic data for conducting the marital and fertility instructions.
出处
《重庆医学》
CAS
北大核心
2016年第19期2635-2637,共3页
Chongqing medicine
基金
广东省惠州市科技计划项目(2014y015)
