MOLECULAR EPIDEMIOLOGY INVESTIGATION OF THALASSEMIA IN CHENGDU REGION,SICHUAN PROVINCE,SOUTHWEST CHINA
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- 英文论文题名：MOLECULAR EPIDEMIOLOGY INVESTIGATION OF THALASSEMIA IN CHENGDU REGION,SICHUAN PROVINCE,SOUTHWEST CHINA
- 论文作者：Xia Yu ; Li-ye Yang ; Hui-Tian Yang ; Cheng-gui Liu ; Deng-cheng Cao ; Wei Sheng ; Min Lin
- 英文论文作者：Xia Yu ; Li-ye Yang ; Hui-Tian Yang ; Cheng-gui Liu ; Deng-cheng Cao ; Wei Sheng ; Min Lin ; Department of Medical Laboratory ; Chengdu Women's & Children's Central Hospital ; Centeral Laboratory ; Chaozhou Central Hospital Affiliated to Southern Medical University
- 年：2014
- 作者机构：Department of Medical Laboratory,Chengdu Women's & Children's Central Hospital;Centeral Laboratory,Chaozhou Central Hospital Affiliated to Southern Medical University;
- 英文论文关键词：Thalassemia ; Molecular epidemiology survey ; Chengdu
- 会议召开时间：2014-12-19
- 会议录名称：广东省遗传学会第九届代表大会暨学术研讨会论文及摘要汇编
- 英文会议录名称：Theses and Abstracts Compilation of 9th Conference on Genetics,Guangdong
- 语种：英文
- 分类号：R556.61
- 学会代码：GDKL
- 会议名称：广东省遗传学会第九届代表大会暨学术研讨会
- 会议地点：中国广东广州
- 主办单位：广东省遗传学会
- 学会名称：广东省科学技术协会科技交流部
- 页数：1
- 文件大小：45k
- 原文格式：O
- 会议级别：地方
摘要
Thalassemia is the most common inherited diseases in southern China.However,this disorder is usually ignored by health system in Sichuan Province due to lack of epidemiological data.To provide basic epidemiology information for thalassemia screening,genetic counseling and prenatal diagnosis(PND) in Chengdu region,a total of3,262 healthy subjects were screened by completed blood cell(CBC) count,reverse dot blot(RDB) gene chip.Our results presented that heterozygote frequency of thalassemia was 3.31%(108/3262),of which 2.21%(72/3262) carried α-thalassemia and 1.16%(38/3262) were β-thalassemia carriers.Four types of a-thalassemia mutation,the most prevalent being the-~(SEA)(68.06%),followed by-α~(3.7)(rightward)(25%),Hb Quong Sze(HBA2:c.377T>C)(4.17%) and-a37(leftward)(2.78%).The six point mutations identified in the β-thalassemia carriers were:HBB:c.316-197C>T(34.21%),HBB:c.52A>T(28.95%),HBB:c.l26_129delCTTT(23.68%),HBB:c.-78A>G(7.89%),HBB:c.-79A>G(2.63%) and HBB:c.84_85insC(2.63%).This was the first detail molecular epidemiological survey of thalassemia in Chengdu region of Sichuan province,People's Republic of China(PRC).
Thalassemia is the most common inherited diseases in southern China.However,this disorder is usually ignored by health system in Sichuan Province due to lack of epidemiological data.To provide basic epidemiology information for thalassemia screening,genetic counseling and prenatal diagnosis(PND) in Chengdu region,a total of3,262 healthy subjects were screened by completed blood cell(CBC) count,reverse dot blot(RDB) gene chip.Our results presented that heterozygote frequency of thalassemia was 3.31%(108/3262),of which 2.21%(72/3262) carried α-thalassemia and 1.16%(38/3262) were β-thalassemia carriers.Four types of a-thalassemia mutation,the most prevalent being the-~(SEA)(68.06%),followed by-α~(3.7)(rightward)(25%),Hb Quong Sze(HBA2:c.377T>C)(4.17%) and-a37(leftward)(2.78%).The six point mutations identified in the β-thalassemia carriers were:HBB:c.316-197C>T(34.21%),HBB:c.52A>T(28.95%),HBB:c.l26_129delCTTT(23.68%),HBB:c.-78A>G(7.89%),HBB:c.-79A>G(2.63%) and HBB:c.84_85insC(2.63%).This was the first detail molecular epidemiological survey of thalassemia in Chengdu region of Sichuan province,People's Republic of China(PRC).
Thalassemia is the most common inherited diseases in southern China.However,this disorder is usually ignored by health system in Sichuan Province due to lack of epidemiological data.To provide basic epidemiology information for thalassemia screening,genetic counseling and prenatal diagnosis(PND) in Chengdu region,a total of3,262 healthy subjects were screened by completed blood cell(CBC) count,reverse dot blot(RDB) gene chip.Our results presented that heterozygote frequency of thalassemia was 3.31%(108/3262),of which 2.21%(72/3262) carried α-thalassemia and 1.16%(38/3262) were β-thalassemia carriers.Four types of a-thalassemia mutation,the most prevalent being the-~(SEA)(68.06%),followed by-α~(3.7)(rightward)(25%),Hb Quong Sze(HBA2:c.377T>C)(4.17%) and-a37(leftward)(2.78%).The six point mutations identified in the β-thalassemia carriers were:HBB:c.316-197C>T(34.21%),HBB:c.52A>T(28.95%),HBB:c.l26_129delCTTT(23.68%),HBB:c.-78A>G(7.89%),HBB:c.-79A>G(2.63%) and HBB:c.84_85insC(2.63%).This was the first detail molecular epidemiological survey of thalassemia in Chengdu region of Sichuan province,People's Republic of China(PRC).
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