[1]张 莉,黄伟忠,唐景云,等.深圳市珠蛋白生成障碍性贫血流行病学调查及基因突变类型与频率分析[J].现代检验医学杂志,2015,30(04):71-73.[doi:10.3969/j.issn.1671-7414.2015.04.019]
 ZHANG Li,HUANG Wei-zhong,TANG Jing-yun,et al.Epidemiological and Gene Mutation Type and Frequency Analysis of Thalassaemia in Shenzhen[J].Journal of Modern Laboratory Medicine,2015,30(04):71-73.[doi:10.3969/j.issn.1671-7414.2015.04.019]
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深圳市珠蛋白生成障碍性贫血流行病学调查及基因突变类型与频率分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第30卷
期数:
2015年04期
页码:
71-73
栏目:
论著
出版日期:
2015-08-10

文章信息/Info

Title:
Epidemiological and Gene Mutation Type and Frequency Analysis of Thalassaemia in Shenzhen
文章编号:
1671-7414(2015)04-071-03
作者:
张 莉黄伟忠唐景云黄国珍叶国永
深圳市坪山新区人民医院检验科,广东深圳 518118
Author(s):
ZHANG LiHUANG Wei-zhongTANG Jing-yunHUANG Guo-zhenYE Guo-yong
Department of Clinical Laboratory, Pingshan New District People's Hospital,Guangdong Shenzhen 518118,China
关键词:
珠蛋白生成障碍性贫血 基因突变 流行病学 基因频率
分类号:
R556.61; Q754
DOI:
10.3969/j.issn.1671-7414.2015.04.019
文献标志码:
A
摘要:
目的 分析深圳市珠蛋白生成障碍性贫血患者基因突变类型与基因携带率的分布特点。方法 选择2012年1月~2013年12月深圳市坪山新区人民医院住院患者、门诊患者、健康体检者2 500例、新生儿脐带血2 500例,分别进行α珠蛋白生成障碍性贫血、β珠蛋白生成障碍性贫血基因类型及携带频率分析。结果 2 500例新生儿脐带血标本中,检出8种α珠蛋白生成障碍性贫血基因类型128例,检出率5.12%(128/2 500),主要基因类型:-SEA/αα(54例,42.19%),-SEA/-α3.7(32例,25%); 2 500例成人样本中,检出7种基因突变类型101例,检出率4.04%(101/2 500); 主要基因突变类型:CD41-42(39例,38.61%),IVS-2-654(21例,20,79%),CD17(18例,17.82%),-28(13例,12.87%)。结论 深圳市珠蛋白生成障碍性贫血突变类型与频率有明显的地区特点与时代特点,卫生部门应加强对流行病学的研究,制定针对性的预防和干预措施。
Abstract:
Objective To analyzed distribution characteristics of gene mutation and gene carrying rate of thalassaemia in Shenzhen.Methods 2 500 cases with adult,neonatal umbilical cord blood of2 500 cases for alpha thalassaemia,beta thalassaemia,gene types and carry frequency were analyzed.Results 8 types of alpha thalassemia gene 128 cases,rate of detection was 5.12%(128/2 500),and the main genetictypes were -SEA/αα(54 cases,42.19%),-SEA/-α3.7(32 cases,25%)respectively.2 500 cases of adult samples were checked out 7 types of gene mutation 101 cases,and detection rate was 4.04%(101/2 500).Main gene mutation type were CD41-42(39 cases,38.61%),IVS-2-654(20,21 cases,79%),CD17(18 cases,17.82%)and -28(13 cases,12.87%)respectively.Conclusion Shenzhen thalassaemia mutation type and frequency had obvious regional characteristics and times characteristics,health authorities should strengthen epidemiology study,formulate corresponding prevention and intervention measures.

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备注/Memo

备注/Memo:
作者简介:张 莉(1972-),女,本科,副主任技师,专业:医学检验,主要从事分子生物学基因诊断,Tel:15927123421。
更新日期/Last Update: 2015-08-10