广西三城市7岁以下儿童13地中海贫血发生率及其基因突变类型的研究

仇小强; 陈萍; 张凝; 曾小云; 黄才千; 陈文强; 林伟雄; 李树全

Abstract

仇小强,陈萍,张凝,曾小云,黄才千,陈文强,林伟雄,李树全.广西三城市7岁以下儿童13地中海贫血发生率及其基因突变类型的研究[J].Chinese journal of Epidemiology,2009,30(10):1021-1024

广西三城市7岁以下儿童13地中海贫血发生率及其基因突变类型的研究

Study on the incidence of 13一Thalassemia and genotypes among children under 7 year-olds in Nanning。Liuzhou and Baise areas。Guangxi province

Received:February 10, 2009

DOI：

KeyWord: D地中海贫血基因型发生率儿童

English Key Word: B—Thalassemia Genotypes Incidence rate Children

FundProject:广西壮族自治Ⅸ科技厅科学研究与技术开发计划(桂科能 0511200l√IE)

Author Name	Affiliation
CHOU Xiao-qiang	Department of Epidemiology, College of Public Health Guangxi Medical University, Nannirzg 530021, China
CHEN Ping	儿科血红蛋白研究室
ZHANG Ning	儿科血红蛋白研究室
ZENG Xiao-yun	Department of Epidemiology, College of Public Health Guangxi Medical University, Nannirzg 530021, China
HUANG Cai-qian	Department of Epidemiology, College of Public Health Guangxi Medical University, Nannirzg 530021, China
CHE Wen-qiang	儿科血红蛋白研究室
LIN Wei-xiong	儿科血红蛋白研究室
LI Shu-quan	儿科血红蛋白研究室

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Abstract:

目的对广西南宁、柳州、百色地区7岁以下儿童进行p地中海贫血发生率及基因突变类型分析。方法按分层整群随机抽样方法，抽取南宁、柳州和百色地区7岁以下儿童共2261 名，进行血常规检测、血红蛋白(Hb)分析和B珠蛋白基因分析。结果2261名儿童中，Hb分析显示125名HbA：升高，经基因分析诊断为B地中海贫血杂合子。p地中海贫血的发生率为5．53％。共检出CD41．42基因突变59例，CDl7基因突变33例，TATAboxnt．28基因突变18例，IVS-II一654基因突变7例，CD43基因突变3例，HbE基因突变3例，CD71—72基因突变1例，及TATAboxnt-29基因突变1例。基因型频率依次为：CD4142为47．20％、CDl7为26．40％、TATAboxnt-28为14．40％、 Ⅳs．Ⅱ．654为5．60％、CD43为2．40％、HbE为2．40％、CD71．72为0．80％和TATAbox nt-29为 O．80％。结论研究显示调查的3个地区地中海贫血发生率较高；7岁以下儿童中存在D地中海贫血基因突变携带者。

English Abstract:

Objective To conduct research of 13-Thalassemia incidence and genotypes on children below 7 years of age in Nanning。Liuzhou and Baise areas，Guangxi province． Methods A total of 2261 children aged below 7 in Nanning．Liuzhou and Baise areas were studied． Venous blood was detected by routine blood test，hemoglobin analysis and 13-Thalassemia genotyping． Results Among 226l samples，125 showed high level of HbA2 and were diagnosed as 3- Thalassemia(5。53％)．Genotypes of the patients were classified as：59 cases with IB-globin gene condon(CD)41-42 mutation，33 cases CDl7 mutation，18 cases with TA TA box nt一28 mutation，7 with IVS．11．654 mutation。3 with CD43 mutation。3 wiⅡl HbE mutation，one with CD7l-72 and TATA box nt．29 mutation．respectively．The genotyping frequencies of 13-Thalassemia were as follows：47．20％for CD4l-42 mutation．26．40％for CDl7 mutation，14．40％for TATAbOX nt-28 mutation．5．60％for IVS．II．654 mutation，2．40％for CD43 mutation，2．40％for HbE mutation，0.80％for CD7 1．72 mutation and L『I=Abox nt．29 mutation respectively．Conclusion This study on children in the area with high incidence of 13-Thalassemia reflected the incidence and characteristics of genotypes in this area．Our data also provided evidence for the development of a program on genetic counseling and prevention for thalassemia．

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