Rapid detection of −α 4.2 deletion of α-thalassemia-2 by polymerase chain reaction

Bunn HF, Forget BG (1986) Hemoglobin: molecular, genetic and clinical aspects. Saunders, Philadelphia

Chang JG, Chiou SS, Perng LI, Chen TC, Liu TC, Lee LS, Chen PH, Tang TK (1992) Molecular characterization of G6PD deficiency by naturally and amplification-created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Blood 80:1079–1082

Chang JG, Lee LS, Lin CP, Chen PH, Chen CP (1991) Rapid diagnosis ofα-thalassemia-1 of Southeast Asia type and hydrops fetalis by polymerase chain reaction. Blood 78:853–854

Chu DM, Hsia YE, Hunt JA, Yuen J (1991) Gap PCR for rapid detection of singleα-globin gene deletions. Am J Hum Genet (Abstract)

Dode' C, Krishnamoorthy R, Lamb J, Rochette J (1992) Rapid analysis of−α 3.7 thalassemia andααα anti 3.7 triplication by enzymatic amplification analysis. Br J Haematol 82:105–111

Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D (1980) Two different molecular organizations account for the singleα-globin gene ofα-thalassemia-2 genotype. J Clin Invest 66:1319–1325

Gibbs RA, Nguyen PN, Caskey CT (1989) Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res 17:2437–2448

Haliossos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A (1989) Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 17:3606

Hess JF, Schmid CW, Shen CKJ (1984) A gradient of sequence divergence in the human adult α-globin duplication units. Science 226:67–70

Higgs DR, Hunt DM, Drysdale HC, Clegg JB, Pressley L, Weatherall DJ (1980) The genetic basis of Hb Q-H disease. Br J Haematol 46:387–400

Higgs DR, Hill AV, Bowden DK, Weatherall DJ, Clegg JB (1984) Independent recombination events between the duplicated human α-globin genes: implications for their concerted evolution. Nucleic Acids Res 12:6965–6977

Higgs DR, Vickers MA, Wilkie AOM, Pretorius IM, Jarman AP, Weatherall DJ (1989) A review of the molecular genetics of the human α-globin gene cluster. Blood 73:1081–1104

Jian W, Kahn SM, Guillem JG, Lu SH, Weinstein IB (1989) Rapid detection of ras oncogenes in human tumors: application to colon, esophageal and gastric cancer. Oncogene 4:923–928

Kulozik AE, Kar CC, Serjeant GR, Serjeant BE, Weatherall DJ (1988) The molecular basis of α thalassemia in India. Its interaction with sickle cell gene. Blood 71:467–472

Lacerra G, Fioretti G, De Angioletti M, Pagano L, Guarino E, de Bonis C, Viola A, Maglione G, Scarallo A, De Rosa L, Carestia C (1991)(α) α 5.3: A novelα +-thalassemia deletion with the breakpoints in theα2-globin gene and in close proximity to an Alu family repeat between the ϕα2- and ϕα 1-globin genes. Blood 78:2740–2746

Lauer J, Shen CKJ, Maniatis T (1980) The chromosomal arrangement of humanα-like globin genes: sequence homology andα-globin gene deletions. Cell 20:119–130

Lee HH, Cheung WF, Chang JG, Liu TC, Leung WY, Ng HT, Choo KB (1988) Molecular analysis of hemoglobin H disease in Taiwan. Proc Natl Sci Counc Repub China [B] 12:52–55

Liebhaber SA (1989) Alpha thalassemia. Hemoglobin 13:685–731

Liebhaber SA, Goossens MJ, Kan YW (1980) Cloning and complete nucleotide sequence of the human 5′-α-globin gene. Proc Natl Acad Sci USA 77:7054–7058

Liebhaber SA, Goossens MJ, Kan YW (1981) Homology and concerted evolution at theα1 andα2 loci of humanα-globin. Nature 290:26–29

Lie-Injo LE, Dozy AM, Kan YW, Lopes M, Todd D (1979) Theα-globin adjacent to the gene for HbQ-α 74 Asp-His is deleted, but not that adjacent to the gene for HbG-α 30 Glu-Gln: three fourths of theα-globin genes are deleted in HbQ-α-thalassemia. Blood 54:1407–1416

Liu TC, Chang JG, Lin CP, Lee LS, Lin SF, Liu HW, Chen TP (1990) Detection ofα-globin gene from single hairs. Kaohsiung J Med Sci 6:181–185

Michelson AM, Orkin SH (1980) The 3′ untranslated regions of the duplicated humanα-globin gene are unexpectedly divergent. Cell 22:371–377

Michelson AM, Orkin SH (1983) Boundaries of gene conversion within the duplicated humanα-globin genes. J Biol Chem 258:15245–15254

Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503–2516

Radich JP, Kopecky KJ, Willman CL, Weick J, Head D, Appelbaum F, Collins SJ (1990) N-ras mutations in adult de novo acute myelogenous leukemia: prevalence and clinical significance. Blood 76:801–807

Weatherall DJ, Clegg JB (1981) The thalassemia syndromes, 3rd edn. Blackwell Scientific, Oxford

Winship PR (1989) An improved method for directly sequencing PCR-amplified material using dimethyl sulphoxide. Nucleic Acids Res 17:1266

Zeng YT, Huang SZ (1985)α-globin gene organization and prenatal diagnosis of a-thalassemia in Chinese. Lancet 1:304–307

Zhao JB, Zhao L, Fei YJ, Liu JC, Huisman THJ (1991) A novelα-thalassemia-2 (−2.7 kb) observed in a Chinese patient with Hb H disease. Am J Hematol 38:248–249