Detection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification

Journal of Clinical Pathology

Volumn 62, Issue 12, 2009, Pages 1107-1111

  So, C C ^a   So, A C Y ^a   Chan, A Y Y ^a   Tsang, S T Y ^a   Ma, E S K ^b   Chan, L C ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b HONG KONG SANATORIUM AND HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN F;

ADULT; AGED; ARTICLE; BETA THALASSEMIA; CHILD; CHINESE; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-GLOBINS; BETA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; FEMALE; FETAL HEMOGLOBIN; GENE DELETION; GENOTYPE; HEMOGLOBINOPATHIES; HUMANS; INFANT; MALE; MIDDLE AGED; MULTIGENE FAMILY; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; THALASSEMIA; YOUNG ADULT;

EID: 73449107518     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jcp.2009.067538     Document Type: Article

References (18)

1. HbVar. Database of human hemoglobin variants and thalassemias http://globin.bx. psu.edu/hbvar/menu.html (accessed 6 April 2009).
2. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
3. Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004;23:413-9.
4. So CC, Chan AY, Tsang ST, et al. A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia. Br J Haematol 2007;136:158-62.
5. Wang W, Ma ES, Chan AY, et al. Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications. Clin Chem 2003;49:1679-82.
6. Craig JE, Barnetson RA, Prior J, et al. Rapid detection of deletions causing δβ thalassaemia and hereditary persistence of foetal haemoglobin by enzymatic amplification. Blood 1994;83:1673- 82.
7. Xu XM, Li ZQ, Liu ZY, et al. Molecular characterization and PCR detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with β-thalassaemia in a Chinese family. Am J Haematol 2000;65:183-8.
8. Kosteas T, Palena A, Anagnou NP. Molecular cloning of the breakpoints of the hereditary persistence of foetal haemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3′ end of the β-globin gene cluster. Hum Genet 1997;100:441-5.
9. Gγ (delta beta)0 thalassaemia. Nucleic Acids Res 1981;9:6813-25.
10. Dimovski AJ, Divoky V, Adekile AD, et al. A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3′HS-1 regulatory sequence: beta zero-thalassemia or hereditary persistence of fetal hemoglobin? Blood 1994;83:822-7.
11. Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 2005;42:922-31.
12. Xu XM, Li ZQ, Liu ZY, et al. Molecular characterization and PCR detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with β-thalassaemia in a Chinese family. Am J Haematol 2000;65:183-8.
13. Keys JR, Tallack MR, Zhan Y, et al. A mechanism for Ikaros regulation of human globin gene switching. Br J Haematol 2008;141:398-406.
14. Orkin SH. Globin gene regulation and switching: circa 1990. Cell 1990;63:665-72.
15. Aγ-globin gene. Clin Res 1990;38:301A.
16. Harteveld CL, Refaldi C, Cassinerio E, et al. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassaemia intermedia phenotypes in beta-thalassaemia heterozygous patients. Blood Cells Mol Dis 2008;40:312-6.
17. Menzel S, Garner C, Gut I, et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet 2007;39:1197-9.
18. So CC, Song YQ, Tsang ST, et al. The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia. J Med Genet 2008;45:745-51.