Translational Research
Volume 155, Issue 3 , Pages 148-155 , March 2010

Novel technique for rapid detection of α-globin gene mutations and deletions

  • Jingzhong Liu

      Affiliations

    • Basic Medical Research Center, Beijing Chaoyang Hospital, Affiliate of The Capital Medical University, Beijing, China
    • Corresponding Author InformationReprint requests: Jingzhong Liu, PhD, Basic Medical Research Center, Beijing Chaoyang Hospital, Affiliate of Capital Medical University, 8 Gongtinanlu, Chaoyang District, Beijing, China 100020
    • ,
  • Xingyuan Jia

      Affiliations

    • Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
    • ,
  • Ning Tang

      Affiliations

    • Liuzhou Women and Children's Hospital, Liuzhou City, Guangxi, China
    • ,
  • Xu Zhang

      Affiliations

    • Transgenomic Ltd, Beijing, China
    • ,
  • Xiaoyi Wu

      Affiliations

    • Beijing Deyi Clinical Diagnostic Laboratory, Beijing, China
    • ,
  • Ren Cai

      Affiliations

    • Liuzhou Women and Children's Hospital, Liuzhou City, Guangxi, China
    • ,
  • Lirong Wang

      Affiliations

    • Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
    • ,
  • Quanzhang Liu

      Affiliations

    • Beijing Deyi Clinical Diagnostic Laboratory, Beijing, China
    • ,
  • Bai Xiao

      Affiliations

    • Basic Medical Research Center, Beijing Chaoyang Hospital, Affiliate of The Capital Medical University, Beijing, China
    • ,
  • Jim Zhu

      Affiliations

    • Transgenomic Ltd, Beijing, China
    • ,
  • Qingtao Wang

      Affiliations

    • Basic Medical Research Center, Beijing Chaoyang Hospital, Affiliate of The Capital Medical University, Beijing, China

Received 4 August 2009 ,Revised 14 October 2009 ,Accepted 16 October 2009.

References 

  1. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73:1081–1104
  2. Lacerra G, Fiorito M, Musollin G, et al. Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE. Hum Mutat. 2004;24:338–349
  3. Chong SS, Boehm CD, Cutting GR, Higgs DR. Simplified multiplex-PCR diagnosis of common Southeast Asian deletional determinants of alpha-thalassemia. Clin Chem. 2000;46:1692–1695
  4. Liu JZ, Ou CY, Wang LR, Xiao B, Huang LJ, Chen LC. Detection of three common deletional alpha-thalassemia determinants in southern China by a single-tube multiplex polymerase chain reaction method. Hemoglobin. 2004;28:39–44
  5. Huisman THJ, Carver MFH, Efremov GD. A syllabus of human hemoglobin variants. Augusta, Ga: The Sickle Cell Anemia Foundation; 1996;111–2
  6. Wen XJ, Liang X, Jin Q, Lin WX. The nondeletional types of HbH disease in Guangxi. Hemoglobin. 1992;16:45–50
  7. Cai R, Liu JZ, Wang L, et al. Study on molecular epidemiology of the alpha-thalassemia in Liuzhou City, Guangxi Autonomous Region, China. Hemoglobin. 2004;28:325–333
  8. Olivieri NF, Chang LS, Doon AO, Michelson AM, Orkin SH. An alpha-gene initiation codon mutation in a black family with HbH disease. Blood. 1987;70:729–732
  9. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single tube multiplex PCR screen for common deletional determinants of alpha-thalassemia. Blood. 2000;95:360–362
  10. Liu JZ, Yan M, Wang ZY, Wang L, Zhou Y, Xiao B. Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green 1 and dissociation curve analysis. Trans Res. 2006;148:6–12
  11. Maggio A, Giombona A, Cai SP, Wall J, Kan YW, Chehab FF. Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood. 1993;81:239–242
  12. Xiao W, Oefer PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat. 2001;17:439–474
  13. Hung CC, Lee CN, Chen CP, et al. Molecular assay of -alpha (3.7) and –alpha (4.2) deletions causing alpha-thalassemia by denaturing high-performance liquid chromotography. Clin Biochem. 2007;l40:817–821
  14. Ou-Yang H, Hua L, Mo QH, Xu XM. Rapid, accurate genotyping of the common–alpha 4.2 thalassemia deletion based on the use of denaturing HPLC. J Clin Pathol. 2004;57:159–163
  15. Duan S, Li HY, Chen Z, et al. Study on gene mutations of alpha-thalassemia in the South of China. Zhongguo Shiyan Xueye Xue Za Zhi. 2003;11:54–60

 Supported by Grant JS96004 from the Natural Science Foundation of Beijing, China.

PII: S1931-5244(09)00303-X

doi: 10.1016/j.trsl.2009.10.003

Translational Research
Volume 155, Issue 3 , Pages 148-155 , March 2010

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