Molecular analysis of β-thalassemia intermedia in Guangdong Province
ZHANG Li, OU Xiao-Bing, YU Yi-Ping
Department of Clinical Laboratory, Guangzhou Children's Hospital, Guangzhou, 510120, China.
Abstract OBJECTIVE: To determine the molecular defects of β-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder. METHODS: DNA analysis of the α, β and γ globin genes was performed in 18 children with β-thalassemia intermedia from Guangdong Province using polymerase chain reaction (PCR ), microarray technique, Southern blot and direct sequencing. RESULTS: Of the 18 patients,one was identified as the homozygote of TATA box-28 (A→G) change, one as the homozygote of βE26 (G→A) mutation, ten as compound heterozygotes of TATA box- 28(A→G) mutation with other β-globin mutations, two as compound heterozygotes of βE26 (G→A ) mutation with other β globin mutations, and four as double heterozygotes for β globin and α globin mutations including -SEA and -α4.2. CONCLUSIONS: The molecular defects of β- thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.［Chin J Contemp Pediatr, 2007, 9 (4):358-360］
Key words ：
β-thalassemia intermedia
Globin gene
Microarray technique
Child
Cite this article:
ZHANG Li,OU Xiao-Bing,TU Yi-Ping. Molecular analysis of β-thalassemia intermedia in Guangdong Province[J]. 中国当代儿科杂志, 2007, 9(4): 358-360.
ZHANG Li,OU Xiao-Bing,TU Yi-Ping. Molecular analysis of β-thalassemia intermedia in Guangdong Province[J]. CJCP, 2007, 9(4): 358-360.
URL:
http://www.zgddek.com/EN/ OR http://www.zgddek.com/EN/Y2007/V9/I4/358
[1]
WANG Jun, LANG Yong-Bin, DU Jiang-Hua, CHEN Zhen, ZHU Deng-Na, ZHANG Yong, LI Meng-Yue, TONG Pei. Effect of suspension exercise training on motor and balance functions in children with spastic cerebral palsy
[2]
DUAN Lian, HU Guo-Huang, JIANG Meng, ZHANG Cheng-Liang, DUAN Yan-Ying. Association of hypoalbuminemia with acute kidney injury in children after cardiac surgery
[3]
CHEN Zai-Sheng, ZHENG Yong-Zhi, CHEN Yi-Qiao, GAO Qin-Li, LI Jian, SHEN Jian-Zhen. Clinical features and prognosis of children with mature B-cell non-Hodgkin's lymphoma: an analysis of 28 cases
[4]
ZHAO Min. Clinical phenotypes and a genetic analysis of patients with Sotos syndrome
[5]
PENG Jia-Yu, HUANG Ying, OU Jiang-Yan, YANG Yang. Association of blood lipids with childhood asthma
[6]
XIU Xiao-Ying, CUI Yu-Xia, HUANG Yu-Ying, FAN Li, YUAN Jun, TIAN Zhu-Li. Association of vitamin D level with asthma control and pulmonary function in asthmatic children aged 4-12 years
[7]
FAN Mei-Rong, WANG Gui-Jie, YU Xin-You. Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case
[8]
YOU Jie-Yu. Features and management of very early onset inflammatory bowel disease
[9]
ZHAO Yun-Jing, MA Hong-Wei. NIPBL gene mutations in two children with Cornelia de Lange syndrome
[10]
LUO Ye, ZHAO Hua, LIU Rui-Fang, SHI Hong-Juan. Current status of exclusive breastfeeding for the second child and factors influencing exclusive breastfeeding in the context of the universal two-child policy
[11]
ZHANG Yi-Bin, WANG Yan-Peng, LIU Jing. Research advances in the role of aptamers in the diagnosis and targeted therapy of pediatric cancer
[12]
WU Yuan-Yuan, CAI Sheng-Yang, HUANG Wei, LI Si-Si, LI Wei, DONG Ao. Clinical and laboratory characteristics of juvenile myelomonocytic leukemia
[13]
QIU Ting, GUO Bing-Bing, WANG Li-Zhen, ZHANG Heng, XU Yin, JIANG Xin-Ye. Association between overweight/obesity in parents and autism spectrum disorders in offspring
[14]
ZHU Ying, DONG Yang, XU Da-Liang, JIANG Jia-Yun, WU Lin, KE Rui-Juan, FANG Shao-Han, PENG Yin. Clinical effect and mechanism of hemoperfusion in treatment of children with severe abdominal Henoch-Schönlein purpura
[15]
CHENG Yan-Qin, ZHAI Xiao-Wen. Clinical application of minimal residual disease detection in childhood acute leukemia
