Detection of α-thalassemia in china by using multiplex ligation-dependent probe amplification

Hemoglobin

Volumn 32, Issue 6, 2008, Pages 561-571

  Liu, Jing Zhong ^a   Han, Han ^a   Schouten, Jan P ^b   Wang, Li Rong ^a   Fan, Xin Ping ^a   Duarte, Helena B ^b   Zhu, Chun Jiang ^c   Cai, Ren ^d   Xiao, Bai ^a   Wang, Qing Tao ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b MRC HOLLAND   (Netherlands)

^c GUILIN MEDICAL UNIVERSITY   (China)

^d Women and Children's Hospital   (China)

Author keywords

Thalassemia ( thal); Chinese; Multiplex ligation dependent probe amplification (MLPA); Multiplex polymerase chain reaction (m PCR); Real time PCR

Indexed keywords

ALPHA GLOBIN;

AGAR GEL ELECTROPHORESIS; ALPHA THALASSEMIA; ARTICLE; CAPILLARY ELECTROPHORESIS; CHINA; CHROMOSOME 16; CONTROLLED STUDY; DNA DETERMINATION; GENE AMPLIFICATION; GENE CLUSTER; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEIC ACID ANALYSIS; POINT MUTATION; REAL TIME POLYMERASE CHAIN REACTION;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; CHINA; ELECTROPHORESIS, CAPILLARY; GENOTYPE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 57449093435     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260802508111     Document Type: Article

References (10)

1. Higgs DR, Vickers MA, Wilkie AOM, Pretorius I-M, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human α-globin gene cluster. Blood. 1989; 73(5):1081-1104.
2. Baysal E, Huisman THJ. Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol. 1994; 46(3):208-213.
3. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000; 95(1):360-362.
4. Liu JZ, Ou CY, Wang LR, Xiao B, Huang LJ, Chen LC. Detection of three common, deletional α-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method. Hemoglobin. 2004; 28(1):39-44.
5. Liu JZ, Yan M, Wang ZY, Wang LR, Zhou Y, Xiao B. Molecular diagnosis of α-thalassemia by combining real-time PCR with SYBR Green 1 and dissociation curve analysis. Translational Res. 2006;148(1):6-12.
6. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenberg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30(12):e57.
7. Harteveld CL, Voskamp A, Phylipsen M. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassemia characterized by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005, 42(12):922-931.
8. Ren R, Liu J, Wang L et al. Study on molecular epidemiology of the α-thalassemia in Liuzhou City, Guangxi Autonomous Region, China. Hemoglobin. 2004; 28(4):325-333.
9. SALSA MLPA KIT P140B HBA (www.mlpa.com).
10. Di Rienzo A, Novelletto A, Aliquo MC et al. Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional α-thalassemia haplotypes. Am J Hum Genet. 1986;39(5):631-639.