Multiplex Ligation-Dependent Probe Amplification Identification of 17 Different β-Globin Gene Deletions (Including Four Novel Mutations) in the Uk Population

REFERENCES

• Weatherall DJ, Wood WG, Jones RW, Clegg JB. Developmental genetics of human haemoglobin. In: Stamatoyannopoulos G, Nienhuis AW, Eds. Experimental Approaches for the Study of Haemoglobin Switching. New York: Liss. 1985;3–35.
   Google Scholar
• Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233 (http:globin.cse.psu.edu).
   Google Scholar
• Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541 (http://globin.cse.psu.edu).
   Google Scholar
• Wood WG. Hereditay persistence of fetal haemoglobin and δβ thalassaemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, Eds. Disorders of Haemoglobin. Cambridge: Cambridge University Press. 2001;356–388.
   Google Scholar
• Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science, 2001.
   Google Scholar
• Shiokawa S, Yamada H, Takihara Y, . Molecular analysis of Japanese δβ-thalassemia. Blood. 1988;72(5):1771–1776.
   PubMed Web of Science ®Google Scholar
• Neishabury M, Azarkeivan A, Oberkanins C, Esteghamat F, Amirizadeh N, Najmabadi H. Molecular mechanisms underlying thalassaemia intermedia in Iran. Genet Test. 2008;12(4):549–556.
   PubMedGoogle Scholar
• Galanello R, Barella S, Satta S, Maccioni L, Pintor C, Cao A. Homozygosity for nondeletion δβ0 thalassemia resulting in a silent clinical phenotype. Blood. 2002;100(5):1913–1914.
   PubMed Web of Science ®Google Scholar
• Rooks H, Bergounioux J, Game L, . Heterogeneity of the εγδβ-thalassaemias: characterisation of three novel English deletions. Br J Haematol. 2005;128(5):722–729.
   PubMed Web of Science ®Google Scholar
• Driscoll M.C, Dobkin CS, Alter BP. γδβ-Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites. Proc Natl Acad Sci USA. 1989; 86(19):7470–7474.
   PubMed Web of Science ®Google Scholar
• Trent RJ, Williams BG, Kearney A, Wilkinson T, Harris PC. Molecular and hematological characterization of Scottish-Irish type (εGγAγδβ)0 thalassemia. Blood. 1990;76(10):2132–2138.
   PubMed Web of Science ®Google Scholar
• Huisman THJ, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants (Second Edition). Augusta: The Sickle Cell Anemia Foundation, 1998 (http://globin.cse.psu.edu).
   Google Scholar
• Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood. 1994;83(6):1673–1682.
   PubMed Web of Science ®Google Scholar
• 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(12):e57.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Furuya C, Yamashiro Y, Hattori Y, . A novel εγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient. Am J Hematol. 2008;83(1):84–86.
   PubMed Web of Science ®Google Scholar
• Gilman JG, Huisman THJ. DNA sequence variation associated with elevated fetal Gγ globin production. Blood. 1985;6(4):783–787.
   Google Scholar
• Garner C, Tatu T, Game L, . A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. GeneScreen. 2000;1(1):9–14.
   Google Scholar
• Thein SL, Menzel S, Peng X, . Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci USA. 2007;104(27):11346–11351.
   PubMed Web of Science ®Google Scholar
• Menzel S, Garner C, Gut I, . A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet. 2007;39(10):1197–1199.
   PubMed Web of Science ®Google Scholar
• Sankaran VG, Menne TF, Xu J, . Human fotal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008;322(5909):1839–1842.
   PubMed Web of Science ®Google Scholar
• Collins FS, Cole JL, Lockwood WK, Iannuzzi MC. The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases. Blood. 1987;70(6):1797–1803.
   PubMed Web of Science ®Google Scholar
• Kutlar A, Gardiner MB, Headlee MG, . Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gγ and Aγ types of γ chain. Biochem Genet. 1984;22(1–2):21–35.
   PubMed Web of Science ®Google Scholar
• Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E. A deletion/inversion rearrangement of the β-globin gene cluster in a Turkish family with δβ0-thalassemia intermedia. Blood. 1992;79(9):2455–2459.
   PubMed Web of Science ®Google Scholar
• Ottolenghi S, Giglioni B, Taramelli R, . Molecular comparison of δβ thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci USA. 1982;79(7):2347–2351.
   PubMed Web of Science ®Google Scholar
• Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ. Restriction mapping of a new deletion responsible for Gγ(δβ)0thalassemia. Nucleic Acids Res. 1981;9(24):6813–6825.
   PubMed Web of Science ®Google Scholar
• Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ. Major rearrangement in the human β-globin gene cluster. Nature. 1981;291(5810):39–44.
   PubMed Web of Science ®Google Scholar
• Mishima N, Landman H, Huisman THJ, Gilman JG. The DNA deletion in an Indian δβ-thalassaemia begins one kilobase from the Aγ globin gene and ends in an L1 repetitive sequence. Br J Haematol. 1989;73(3):375–379.
   PubMed Web of Science ®Google Scholar
• Palena A, Blau A, Stamatoyannopoulos G, Anagnou N. Eastern European (δβ)0 thalassemia: molecular characterization of a novel 9.1 kb deletion resulting in high levels of fetal hemoglobin in the adult. Blood. 1994; 83(12):3738–3745.
   PubMed Web of Science ®Google Scholar
• Waye JS, Eng B, Hunt JA, Chui D. Filipino β-thalassemia due to a large deletion: identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis. Hum Genet. 1994; 94(5):530–532.
   PubMed Web of Science ®Google Scholar
• Motum PI, Lindeman R, Hamilton TJ, Trent RJ. Australian β0-thalassemia: a high Hb A2 β0-thalassemia due to a 12 kb deletion commencing 5′ to the β-globin gene. Br J Haematol. 1992;82(1):107–113.
   PubMed Web of Science ®Google Scholar