Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and α-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Journal of Medical Genetics

Volumn 42, Issue 12, 2005, Pages 922-931

  Harteveld, C L ^a   Voskamp, A ^a   Phylipsen, M ^a   Akkermans, N ^a   Den Dunnen, J T ^a   White, S J ^a   Giordano, P C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN;

ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CHROMOSOME 11P; CHROMOSOME 16P; CHROMOSOME REARRANGEMENT; DNA DETERMINATION; DOWN REGULATION; GENE AMPLIFICATION; GENE CLUSTER; GENE DELETION; GENE EXPRESSION REGULATION; HUMAN; MOLECULAR WEIGHT; NUCLEIC ACID PROBE; PREGNANCY; PRIORITY JOURNAL;

ALPHA-THALASSEMIA; BETA-THALASSEMIA; BLOTTING, SOUTHERN; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 16; DOWN-REGULATION; FEMALE; FLUORESCENT DYES; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MULTIGENE FAMILY; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE PROBES; POLYMERASE CHAIN REACTION; PREGNANCY;

EID: 29144480573     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.033597     Document Type: Article

References (40)

1. Weatherall DJ, Clegg JB, eds. The thalassemia syndromes. Oxford: Blackwell Scientific, 1981.
2. Thein SL. β-Thalassaemia. In: Rodgers GP, ed. Sickle cell disease and thalassaemia. Baillière's clinical haematology. Vol 11. London: Baillière Tindall, 1998:91-126.
3. Bernini LF, Harteveld CL. α-Thalassaemia. In: Rodgers GP, ed. Sickle cell disease and thalassaemia. Baillière's clinical haematology. Vol 11. London: Baillière Tindall, 1998:53-90.
4. Higgs DR, Thein SL, Wood WG. The molecular pathology of the thalassaemias. In: Weatherall DJ, Clegg JB, eds. the thalassaemia syndromes. 4th ed. Oxford: Blackwell Science, 2001:133-92.
5. Silvestroni ID. Le thalassemie. Rome: Istituto Italiano di Medicina Sociale, 1998.
6. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplications by multiplex polymerase chain reaction. Br J Haematol 2000;108:295-9.
7. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000;95:360-2.
8. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 1994;83:1673-82.
9. Knight SJ, Horsley SW, Regan R, Lawrie NM, Maher EJ, Cardy DL, Flint J, Kearney L. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997;5:1-8.
10. Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet 2001;9:217-25.
11. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
12. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 2003;22:428-33.
13. Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004;23:413-9.
14. Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy RF. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 2004;23:17-21.
15. White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Human Mutat 2004;24:86-92.
16. Giordano PC, Harteveld CL, Heister AJGM, Batelaan D, van Delft P, Plug R, Losekoot M, Bernini LF. The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochtonous and autochtonous Dutch population. Community Genet 1998;1:243-51.
17. Dacie JV, Lewis SM, eds. Practical haematology. Edinburgh, UK: Churchill Livingstone, 1991.
18. Lin CK, Gau JP, Hsu HC, Jiang ML. Efficacy of a modified improved technique for detecting red cell haemoglobin H inclusions. Clin Lab Haematol 1990;12:409-15.
19. Harteveld CL, Losekoot M, Fodde R, Giordano PC, Bernini LF. The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α-thalassaemia deletion breakpoints. Hum Genet 1997;99:528-34.
20. Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M, Giordano PC. A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin. Br J Haematol 2003;120:364-6.
21. Harteveld CL, Osborne CS, Peters M, van der Werf S, Plug R, Fraser P, Giordano PC. Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family. Br J Haematol 2003;122:855-8.
22. Losekoot M, Fodde R, Gerritsen EJ, van de Kuit I, Schreuder A, Giordano PC, Vossen JM, Bernini LF. Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma+((A) gamma delta beta)(0)-tnalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant. Blood 1991;77:861-7.
23. Dimiovski AJ, Divoky V, Adekile AD, Baysal E, Wilson JB, Prior JF, Raven JL, Huisman TH. 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.
24. Oilman JG. The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia. Br J Haematol 1987;67:369-72.
25. Orkin SH, Old JM, Weatherall DJ, Nathan DG. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci U S A 1979;76:2400-4.
26. White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002;71:365-74.
27. Kent WJ. BLAT - the Blast-like alignment tool. Genome Res 2002;12:656-64.
28. Wilkie AO, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, Nicholls RD, Barrow M, Bethlenfalvay NC, et al. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 1990;46:1112-26.
29. Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum Mol Genet 2001;10:339-52.
30. Huisman THJ, Carver FMH, Efremov GD, eds. A syllabus of human hemoglobin variants, 2nd ed. Augusta, GA: The Sickle Cell Anemia Foundation, 1998.
31. Harteveld CL, Losekoot M, Heister AJ, van der Wielen M, Giordano PC, Bernini LF. Alpha-thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations. Hum Genet 1997;100:465-71.
32. Abels J, Michiels JJ, Giordano PC, Bernini LF, Baysal E, Smetanina NS, Kazanetz EG, Leonova JY, Huisman TH. A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient. Acta Haematol 1996;96:108-9.
33. Henthorn PS, Smithies O, Mager DL. Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints. Genomics 1990;6:226-37.
34. Craig JE, Barnetson R, Weatherall DJ, Thein SL. Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction. Blood 1993;81:861-3.
35. Mishima N, Landman H, Huisman TH, Gilman JG. The DNA deletion in an Indian delta beta-thalassaemia begins one kilobase from the A gamma globin gene and ends in an L1 repetitive sequence. Br J Haematol 1989;73:375-9.
36. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 2005;6:29-35.
37. Harteveld CL, Muglia M, Passarino G, Kielman MF, Bernini LF. Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster. Br J Haematol 2002;119:848-54.
38. Higgs DR, Sharpe JA, Wood WG. Understanding a globin gene expression: a step towards effective gene therapy. Semin Hematol 1998;35:93-104.
39. Anguita E, Sharpe JA, Sloane-Stanley JA, Tufarelli C, Higgs DR, Wood WG. Deletion of the mouse α-globin regulatory element (HS-26) has an unexpectedly mild phenotype. Blood 2002;100:3450-6.
40. Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet 2004;41:175-82.