Detection of deletions/duplications in α-globin gene cluster by multiplex ligation-dependent probe amplification

Genetic Testing and Molecular Biomarkers

Volumn 16, Issue 7, 2012, Pages 684-688

  Nezhat, Naghmeh ^a   Akbari, Mohammad Taghi ^b,c  

^a ISLAMIC AZAD UNIVERSITY   (Iran)

^b TARBIAT MODARES UNIVERSITY   (Iran)

^c Tehran Medical Genetics Laboratory   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN;

ALPHA THALASSEMIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; IRAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GLIADIN; HUMANS; LIGASE CHAIN REACTION; MALE; MULTIGENE FAMILY; REGULATORY ELEMENTS, TRANSCRIPTIONAL; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION;

EID: 84863951940     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2011.0251     Document Type: Article

References (21)

1. Chan V, et al. (2001) Quantitative polymerase chain reaction for the rapid prenatal diagnosis of homozygous a-thalassemia (Hb barts hydrops fetalis). Br J Haematol 115:341-346. (Pubitemid 34203500)
2. Chong SS, et al. (2000) Single-tube multiplex PCR screen for common deletional determinants of alpha-thalassemia. Blood 95:360-362. (Pubitemid 30017265)
3. Clark BE, et al. (2004) Molecular diagnosis of haemoglobin disorders. Clin Lab Haematol 26:159-179.
4. Clegg JB (1987) Can the product of the y gene be a read globin? Nature 329:465.
5. Coelho A, et al. (2010) Novel large deletions in the human a-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis 45:147-153.
6. Flint J, et al. (1998) The population genetics of the haemoglobi-nopathies. Baillieres Clin Haematol 11:1-52.
7. Harteveld CL, et al. (2005) 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 42:922-931. (Pubitemid 41811314)
8. Kan YW (1985) Molecular pathology of alpha-thalassemia. Ann NY Acad Sci 445:28-36.
9. Liebhaber SA (1989). Alpha-thalassemia (abstract). Hemoglobin 13:685.
10. Lee GR, et al. (1999) Wintrobes Clinical Hematology, Vol. 10, 10th ed. Williams and Wilkins, Baltimore.
11. MRC-Holland (2008) MLPA Step by Step DNA Detection/Quantification Protocol. www.mlpa.com
12. MRC-Holland (2010a) SALSA MLPA KIT P140-B2 HBA. www.mlpa.com
13. MRC-Holland (2010b) Genaral MLPA Protocol for DNA Detection & Quantification. www.mlpa.com
14. Neishabury M, et al. (2001) Alpha-thalassemia:deletion analysis in Iran. Arch Irn Med 4:160-164.
15. Old JM (2003) Screening and genetic diagnosis of haemoglobin disorders. Blood 17:43-53. (Pubitemid 36176210)
16. Rugless MJ, et al. (2008) A large deletion in the human a-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. Hum Mol Genet 17:3084-3093.
17. Schouten JP, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57.
18. Sellner LN, et al. (2004) MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23:413-419. (Pubitemid 38569212)
19. Tan ASC, et al. (2001) A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 98:250-251.
20. 1 are a frequent cause of heredity non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 22:428-433. (Pubitemid 38009945)
21. Viparkasit V, et al. (2006) A novel deletion causing a-thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood 107:3811-3812.