检验医学与临床2017，Vol.14Issue(z2)：58-62,5.DOI:10.3969/j.issn.1672-9455.2017.26.022
四川地区地中海贫血基因型分析
Investigation of thalassemia genotypes in Sichuan region
毛家丽 1董巍 1刘友 1吴定辉 1白俊 1周炜1
作者信息
- 1. 四川金域医学检验中心有限公司实验诊断部,四川成都610051
- 折叠
摘要
Abstract
Objective To analysis the thalassemia genotype distribution characteristics in Sichuan region.Methods Three com-mon deletions of α-thalassemia were detected by GAP-PCR,seventeen common mutations of β-thalassemia were detected by PCR re-verse dot blot hybridization.5 245 thalassemia cases which detected by SichuanKingmedCenterforClinicalLaboratory CO.,LTD from Feb2015 to July 2015 were analyzed.Results 1 741 cases were identified as thalassemia.779 cases were diagnosed as α-thalassemia, which accounted for 44.74%.922 cases were diagnosed as β-thalassemia,which accounted for 52.96%.33 cases were diagnosed as αβ compound thalassemia.7 cases suspected for rare type.The positive detection rate of northern Sichuan area was the highest, reached 46.93%;followed by Southern Sichuan area,which was 33.70%;Western Sichuan area was 31.10%;the lowest was East-ern Sichuan area,which was 24.13%.Conclusion The thalassemia genotype distribution in Sichuan region has regional characteris-tics.β-thalassemia is more than α-thalassemia in Sichuan region,the--SEA/αα and-α3.7/αα are the main genotypes of α-thalassemia, the CD17(A→T)/N、CD41-42(-TCTT)/N are the main genotypes of β-thalassemia.Because of this genotype distribution character-istics,the a3.7/--SEA(HbH)and CD17(A→T)/CD17(A→T)、CD41-42(-TCTT)/CD41-42(-TCTT)are common.关键词
地中海贫血/基因型/四川地区/基因诊断Key words
thalassemia/genotype/Sichuan region/gene diagnosis引用本文复制引用
毛家丽,董巍,刘友,吴定辉,白俊,周炜..四川地区地中海贫血基因型分析[J].检验医学与临床,2017,14(z2):58-62,5.
