REFERENCES
- Weatherall DJ. Thalassemia as a global health problem: recent progress toward its control in the developing countries. Ann NY Acad Sci. 2010;1202:17–23.
- Cao A, Galanello R. β-Thalassemia. Genet Med. 2010;12(2):61–76.
- Weatherall DJ. Phentotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245–255.
- Hillman R, Ault K. Hematology in Clinical Practice, 3rd ed. New York: McGraw-Hill, 2002.
- Kuliev A, Rechitsky S, Verlinsky O, . Preimplantation diagnosis of thalassaemias. J Assist Reprod Genet. 1998;15(5):219–225.
- El-Hashemite N, Wells D, Delhanty JD. Single cell detection of α-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis. Mol Hum Reprod. 1997;3(8):693–698.
- Kanavakis E, Traeger-Synodinos J, Vrettou C, Maragoudaki E, Tzetis M, Kattamis C. Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods. Mol Hum Reprod. 1997;3(6):523–528.
- Reuter M, Küpper Y, Schmitz A, Breuer JP, Wend U, Hennig J. Detection of new single nucleotide polymorphisms by means of real time PCR. J Genet. 2005;84(3):341–345.
- Lyon E, Wittwer CT. LightCycler technology in molecular diagnostics. J Mol Diagn. 2009;11(2):93–101.
- Wells D, Delhanty JD. Preimplantation genetic diagnosis: applications for molecular medicine. Trends Mol Med. 2001;7(1):23–30.
- Sermon K, Lissens W, Nagy ZP, Van Steirteghem A, Liebaers I. Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Hum Reprod. 1995;10(8):2214–2217.
- Kontogianni EH, Griffin DK, Handyside AH. Identifying the sex of human preimplantation embryos in X-linked disease: amplification efficiency of a Y-specific alphoid repeat from single blastomeres with two lysis protocols. J Assist Reprod Genet. 1996;13(2):125–132.
- Holding C, Monk M. Diagnosis of α-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet. 1989;2(8662):532–535.
- Katz MG, Trounson AO, Cram DS. DNA fingerprinting of sister blastomeres from human IVF embryos. Hum Reprod. 2002;17(3):752–759.
- Handyside AH, Delhanty JD. Preimplantation genetic diagnosis: strategies and surprises. Trends Genet. 1997;13(7):270–275.
- ESHRE PGD Consortium Steering Committee. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection III. Hum Reprod. 2002;17(1):233–246.
- Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn. 2001;21(6):490–497.
- Cui KH, Matthews CD. Nuclear structural conditions and PCR amplification in human preimplantation diagnosis. Mol Hum Reprod. 1996;2(1):63–71.
- WHO Guidelines for the control of haemaoglobin disorders, WHO/HDP/GL 94,1 Control of Hereditary Diseases, WHO, Geneva, 1996.
- Modell B, Darlison M, Birgens H, . Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest. 2007;67(1):39–70.
- Ghazi O, Tadmouri A, Başak N. β-Thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin. 2001;25(2):227–239.
- Vrettou C, Traeger-Synodinos J, Tzetis M, Malamis G, Kanavakis E. Rapid screening of multiple β-globin gene mutations by real time PCR (LightCyclerTM): application to carrier screening and prenatal diagnosis for thalassemia syndromes. Clin Chem. 2003;49(5):769–776.
- De Rycke M, van de Velde H, Sermon K, . Preimplantation genetic diagnosis for sickle-cell anemia and for α-thalassemia. Prenat Diagn. 2001;21(3):214–222.
- Ray PF, Kaeda JS, Bingham J, Roberts I, Handyside AH. Preimplantation genetic diagnosis of β-thalassaemia major. Lancet. 1996;347(9016):1696.
- Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn. 1998;18(13):1389–1401.
- Harton GL, De Rycke M, Fiorentino F, . ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33–40.
- Tadmouri GO, Tüzmen S, Ozçelik H, . Molecular and population genetic analyses of α-thalassemia in Turkey. Am J Hematol. 1998;57(3):215–220.
- Piyamongkol W, Harper JC, Delhanty JD, Wells D. Preimplantation genetic diagnostic protocols for α- and β-thalassaemias using multiplex fluorescent PCR. Prenat Diagn. 2001;21(9):753–759.
- Vrettou C, Traeger-Synodinos J, Tzetis M, Palmer G, Sofocleous C, Kanavakis E. Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat. 2004;23(5):513–521.
- Hussey ND, Davis T, Hall JR, . Preimplantation genetic diagnosis for β-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci. Mol Hum Reprod. 2002;8(12):1136–1143.
- Kuo HC, Ogilvie CM, Handyside AH. Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis. J Assist Reprod Genet. 1998;15(5):276–280.
- Jombart T, Pontier D, Dufour AB. Genetic markers in the playground of multivariate analysis. Heredity. 2009;102(4):330–341.
- O’Briant KC, Bepler G. Delineation of the centromeric and telomeric chromosome segment 11p15.5 lung cancer suppressor regions LOH11A and LOH11B. Genes Chromosomes Cancer. 1997;18(2):111–114.
- Bobba A, Marra E, Fathallah DM, Giannattasio S. Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients. Mol Cell Probes. 2003;17(6):271–274.
- Gupta A, Aikath D, Neogi R, . Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet. 2005;118(1):49–57.
- Gupta A, Aikath D, Neogi R, . Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clin Chem. 2007;53(9):1601–1608.
- Gupta A, Neogi R, Mukherjea M, . DNA linkage based diagnosis of Wilson disease in asymptomatic siblings. Indian J Med Res. 2003;118:208–214.
- Gupta A, Nasipuri P, Das SK, Ray K. Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of Wilson disease. Clin Chem. 2006;52(8):1611–1612.
- Mutirangura A, Kuwano A, Ledbetter SA, Chinault AC, Ledbetter DH. Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet. 1992;1(2):139.
- Aráoz HV, Torrado M, Barreiro C, Chertkoff L. A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population. Genet Mol Res. 2006;5(2):390–398.
- Taiwan Polymorphic Marker Database (TPMD) (http://tpmd.nhri.org.tw/php-bin/index_en.php).
- Bernard MH, Sidhu S, Berger N, . A case report in favor of a multistep adrenocortical tumorigenesis. J Clin Endocrinol Metab. 2003;88(3):998–1001.
- Wang Y, Samuels JF, Chang YC, . Gender differences in genetic linkage and association on 11p15 in obsessive-compulsive disorder families. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(1):33–40.