메뉴 건너뛰기




Volumn 36, Issue 3, 2012, Pages 230-243

Genotyping of β-globin gene mutations in single lymphocytes: A preliminary study for preimplantation genetic diagnosis of monogenic disorders

Author keywords

Globin gene; Real time polymerase chain reaction (PCR); Single cell polymerase chain reaction (PCR); Thalassemia

Indexed keywords

BETA GLOBIN;

EID: 84860738512     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2012.675891     Document Type: Article
Times cited : (3)

References (42)
  • 1
    • 77955899256 scopus 로고    scopus 로고
    • Thalassemia as a global health problem: Recent progress toward its control in the developing countries
    • 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.
    • (2010) Ann. N. Y. Acad Sci. , vol.1202 , pp. 17-23
    • Weatherall, D.J.1
  • 2
    • 77149153067 scopus 로고    scopus 로고
    • β-Thalassemia
    • Cao A, Galanello R. β-Thalassemia. Genet Med. 2010;12(2):61-76.
    • (2010) Genet. Med. , vol.12 , Issue.2 , pp. 61-76
    • Cao, A.1    Galanello, R.2
  • 3
    • 0035320886 scopus 로고    scopus 로고
    • Phentotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
    • Weatherall DJ. Phentotype-genotype relationships in monogenic disease: Lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245-255.
    • (2001) Nat. Rev. Genet. , vol.2 , Issue.4 , pp. 245-255
    • Weatherall, D.J.1
  • 6
    • 0031196688 scopus 로고    scopus 로고
    • Single cell detection of a-thalassaemia mutations using silver stained SSCP analysis: An application for preimplantation diagnosis
    • El-Hashemite N, Wells D, Delhanty JD. Single cell detection of a-thalassaemia mutations using silver stained SSCP analysis: An application for preimplantation diagnosis. Mol Hum Reprod. 1997;3 (8):693-698.
    • (1997) Mol. Hum. Reprod. , vol.3 , Issue.8 , pp. 693-698
    • El-Hashemite, N.1    Wells, D.2    Delhanty, J.D.3
  • 8
    • 31544482149 scopus 로고    scopus 로고
    • Detection of new single nucleotide polymorphisms by means of real time PCR
    • 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.
    • (2005) J. Genet. , vol.84 , Issue.3 , pp. 341-345
    • Reuter, M.1    Küpper, Y.2    Schmitz, A.3    Breuer, J.P.4    Wend, U.5    Hennig, J.6
  • 9
    • 64249109687 scopus 로고    scopus 로고
    • LightCycler technology in molecular diagnostics
    • Lyon E, Wittwer CT. LightCycler technology in molecular diagnostics. J Mol Diagn. 2009;11(2):93-101.
    • (2009) J. Mol. Diagn. , vol.11 , Issue.2 , pp. 93-101
    • Lyon, E.1    Wittwer, C.T.2
  • 10
    • 0034478002 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: Applications for molecular medicine
    • Wells D, Delhanty JD. Preimplantation genetic diagnosis: Applications for molecular medicine. Trends Mol Med. 2001;7(1):23-30.
    • (2001) Trends Mol. Med. , vol.7 , Issue.1 , pp. 23-30
    • Wells, D.1    Delhanty, J.D.2
  • 11
    • 0029028913 scopus 로고
    • Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres
    • 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.
    • (1995) Hum. Reprod. , vol.10 , Issue.8 , pp. 2214-2217
    • Sermon, K.1    Lissens, W.2    Nagy, Z.P.3    Van Steirteghem, A.4    Liebaers, I.5
  • 12
    • 0024339824 scopus 로고
    • Diagnosis of a-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos
    • Identifying the sex of human preimplantation embryos in X-linked disease: Amplification efficiency of a Y-specific alphoid 13 Holding C Monk M
    • Kontogianni EH, Griffin DK, Handyside AH. Identifying the sex of human preimplantation embryos in X-linked disease: Amplification efficiency of a Y-specific alphoid 13. Holding C, Monk M. Diagnosis of a-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet. 1989;2(8662):532-535.
    • (1989) Lancet. , vol.2 , Issue.8662 , pp. 532-535
    • Kontogianni, E.H.1    Griffin, D.K.2    Handyside, A.H.3
  • 13
    • 0036125859 scopus 로고    scopus 로고
    • DNA fingerprinting of sister blastomeres from human IVF embryos
    • Katz MG, Trounson AO, Cram DS. DNA fingerprinting of sister blastomeres from human IVF embryos. Hum Reprod. 2002;17(3):752-759.
    • (2002) Hum. Reprod. , vol.17 , Issue.3 , pp. 752-759
    • Katz, M.G.1    Trounson, A.O.2    Cram, D.S.3
  • 14
    • 0030904122 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: Strategies and surprises
    • Handyside AH, Delhanty JD. Preimplantation genetic diagnosis: Strategies and surprises. Trends Genet. 1997;13(7):270-275.
    • (1997) Trends Genet. , vol.13 , Issue.7 , pp. 270-275
    • Handyside, A.H.1    Delhanty, J.D.2
  • 15
    • 0001043863 scopus 로고    scopus 로고
    • Eshre preimplantation genetic diagnosis (PGD) consortium: Data collection III
    • Eshre PGD Consortium Steering Committee
    • ESHRE PGD Consortium Steering Committee. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: Data collection III. Hum Reprod. 2002;17(1):233-246.
    • (2002) Hum. Reprod. , vol.17 , Issue.1 , pp. 233-246
  • 16
    • 0034919617 scopus 로고    scopus 로고
    • A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis
    • 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.
    • (2001) Prenat Diagn. , vol.21 , Issue.6 , pp. 490-497
    • Thornhill, A.R.1    McGrath, J.A.2    Eady, R.A.3    Braude, P.R.4    Handyside, A.H.5
  • 17
    • 0029677707 scopus 로고    scopus 로고
    • Nuclear structural conditions and PCR amplification in human preimplantation diagnosis
    • Cui KH, Matthews CD. Nuclear structural conditions and PCR amplification in human preimplantation diagnosis. Mol Hum Reprod. 1996;2(1):63-71.
    • (1996) Mol. Hum. Reprod. , vol.2 , Issue.1 , pp. 63-71
    • Cui, K.H.1    Matthews, C.D.2
  • 18
    • 0004018980 scopus 로고    scopus 로고
    • WHO guidelines for the control of haemaoglobin disorders WHO/HDP/GL 94,1, WHO, Geneva
    • WHO Guidelines for the control of haemaoglobin disorders, WHO/HDP/GL 94,1 Control of Hereditary Diseases, WHO, Geneva, 1996.
    • (1996) Control of Hereditary Diseases
  • 19
    • 33846957753 scopus 로고    scopus 로고
    • Epidemiology of haemoglobin disorders in Europe: An overview
    • Modell B, Darlison M, Birgens H, et al. Epidemiology of haemoglobin disorders in Europe: An overview. Scand J Clin Lab Invest. 2007;67(1):39-70.
    • (2007) Scand. J. Clin. Lab Invest. , vol.67 , Issue.1 , pp. 39-70
    • Modell, B.1    Darlison, M.2    Birgens, H.3
  • 20
    • 0034946844 scopus 로고    scopus 로고
    • β-Thalassemia in Turkey: A review of the clinical, epidemiological, molecular, and evolutionary aspects
    • Ghazi O, Tadmouri A, Basak N. β-Thalassemia in Turkey: A review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin. 2001;25(2):227-239.
    • (2001) Hemoglobin , vol.25 , Issue.2 , pp. 227-239
    • Ghazi, O.1    Tadmouri, A.2    Basak, N.3
  • 21
    • 0037406282 scopus 로고    scopus 로고
    • Rapid screening of multiple β-globin gene mutations by real time PCR (LightCyclerTM): Application to carrier screening and prenatal diagnosis for thalassemia syndromes
    • 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.
    • (2003) Clin. Chem. , vol.49 , Issue.5 , pp. 769-776
    • Vrettou, C.1    Traeger-Synodinos, J.2    Tzetis, M.3    Malamis, G.4    Kanavakis, E.5
  • 22
    • 0035064640 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for sickle-cell anemia and for a-thalassemia
    • De Rycke M, van De Velde H, Sermon K, et al. Preimplantation genetic diagnosis for sickle-cell anemia and for a-thalassemia. Prenat Diagn. 2001;21(3):214-222.
    • (2001) Prenat Diagn. , vol.21 , Issue.3 , pp. 214-222
    • De Rycke, M.1    Van De Velde, H.2    Sermon, K.3
  • 23
    • 0029936083 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of β-thalassaemia major
    • Ray PF, Kaeda JS, Bingham J, Roberts I, Handyside AH. Preimplantation genetic diagnosis of β-thalassaemia major. Lancet. 1996;347(9016):1696.
    • (1996) Lancet , vol.347 , Issue.9016 , pp. 1696
    • Ray, P.F.1    Kaeda, J.S.2    Bingham, J.3    Roberts, I.4    Handyside, A.H.5
  • 24
    • 0032416351 scopus 로고    scopus 로고
    • Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification
    • Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn. 1998;18(13):1389- 1401.
    • (1998) Prenat Diagn. , vol.18 , Issue.13 , pp. 1389-1401
    • Wells, D.1    Sherlock, J.K.2
  • 25
    • 78650690846 scopus 로고    scopus 로고
    • Eshre PGD consortium best practice guidelines for amplification-based PGD
    • Harton GL, De Rycke M, Fiorentino F, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33-40.
    • (2011) Hum. Reprod. , vol.26 , Issue.1 , pp. 33-40
    • Harton, G.L.1    De Rycke, M.2    Fiorentino, F.3
  • 26
    • 2642647057 scopus 로고    scopus 로고
    • Molecular and population genetic analyses of a-thalassemia in Turkey
    • Tadmouri GO, Tüzmen S, Ozçelik H, et al. Molecular and population genetic analyses of a-thalassemia in Turkey. Am J Hematol. 1998;57(3):215-220.
    • (1998) Am. J. Hematol. , vol.57 , Issue.3 , pp. 215-220
    • Tadmouri, G.O.1    Tüzmen, S.2    Ozçelik, H.3
  • 27
    • 0034805203 scopus 로고    scopus 로고
    • Preimplantation genetic diagnostic protocols for a-And β-thalassaemias using multiplex fluorescent PCR
    • Piyamongkol W, Harper JC, Delhanty JD, Wells D. Preimplantation genetic diagnostic protocols for a-And β-thalassaemias using multiplex fluorescent PCR. Prenat Diagn. 2001;21(9):753-759.
    • (2001) Prenat Diagn. , vol.21 , Issue.9 , pp. 753-759
    • Piyamongkol, W.1    Harper, J.C.2    Delhanty, J.D.3    Wells, D.4
  • 28
    • 2342622835 scopus 로고    scopus 로고
    • 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
    • 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.
    • (2004) Hum. Mutat. , vol.23 , Issue.5 , pp. 513-521
    • Vrettou, C.1    Traeger-Synodinos, J.2    Tzetis, M.3    Palmer, G.4    Sofocleous, C.5    Kanavakis, E.6
  • 29
    • 0036924622 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for β-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci
    • Hussey ND, Davis T, Hall JR, et al. 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.
    • (2002) Mol. Hum. Reprod. , vol.8 , Issue.12 , pp. 1136-1143
    • Hussey, N.D.1    Davis, T.2    Hall, J.R.3
  • 30
    • 0031902605 scopus 로고    scopus 로고
    • Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis
    • 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.
    • (1998) J. Assist. Reprod. Genet. , vol.15 , Issue.5 , pp. 276-280
    • Kuo, H.C.1    Ogilvie, C.M.2    Handyside, A.H.3
  • 31
    • 63149104033 scopus 로고    scopus 로고
    • Genetic markers in the playground of multivariate analysis
    • Jombart T, Pontier D, Dufour AB. Genetic markers in the playground of multivariate analysis. Heredity. 2009;102(4):330-341.
    • (2009) Heredity , vol.102 , Issue.4 , pp. 330-341
    • Jombart, T.1    Pontier, D.2    Dufour, A.B.3
  • 32
    • 0031032371 scopus 로고    scopus 로고
    • Delineation of the centromeric and telomeric chromosome segment 11p15.5 lung cancer suppressor regions LOH11A and LOH11B
    • 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.
    • (1997) Genes Chromosomes Cancer. , vol.18 , Issue.2 , pp. 111-114
    • O'Briant, K.C.1    Bepler, G.2
  • 33
    • 0242320541 scopus 로고    scopus 로고
    • Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients
    • 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.
    • (2003) Mol. Cell Probes. , vol.17 , Issue.6 , pp. 271-274
    • Bobba, A.1    Marra, E.2    Fathallah, D.M.3    Giannattasio, S.4
  • 34
    • 33646827879 scopus 로고    scopus 로고
    • Molecular pathogenesis of Wilson disease: Haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients
    • Gupta A, Aikath D, Neogi R, et al. 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.
    • (2005) Hum. Genet. , vol.118 , Issue.1 , pp. 49-57
    • Gupta, A.1    Aikath, D.2    Neogi, R.3
  • 35
    • 34548336583 scopus 로고    scopus 로고
    • Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers
    • Gupta A, Aikath D, Neogi R, et al. Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clin Chem. 2007;53(9):1601-1608.
    • (2007) Clin. Chem. , vol.53 , Issue.9 , pp. 1601-1608
    • Gupta, A.1    Aikath, D.2    Neogi, R.3
  • 36
    • 0347917313 scopus 로고    scopus 로고
    • DNA linkage based diagnosis of Wilson disease in asymptomatic siblings
    • Gupta A, Neogi R, Mukherjea M, et al. DNA linkage based diagnosis of Wilson disease in asymptomatic siblings. Indian J Med Res. 2003;118:208-214.
    • (2003) Indian J. Med. Res. , vol.118 , pp. 208-214
    • Gupta, A.1    Neogi, R.2    Mukherjea, M.3
  • 37
    • 33746597401 scopus 로고    scopus 로고
    • Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of Wilson disease
    • 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.
    • (2006) Clin. Chem. , vol.52 , Issue.8 , pp. 1611-1612
    • Gupta, A.1    Nasipuri, P.2    Das, S.K.3    Ray, K.4
  • 38
    • 0026865322 scopus 로고
    • Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15
    • 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.
    • (1992) Hum. Mol. Genet. , vol.1 , Issue.2 , pp. 139
    • Mutirangura, A.1    Kuwano, A.2    Ledbetter, S.A.3    Chinault, A.C.4    Ledbetter, D.H.5
  • 39
    • 33745594036 scopus 로고    scopus 로고
    • A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population
    • 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.
    • (2006) Genet. Mol. Res. , vol.5 , Issue.2 , pp. 390-398
    • Aráoz, H.V.1    Torrado, M.2    Barreiro, C.3    Chertkoff, L.4
  • 41
    • 0037366078 scopus 로고    scopus 로고
    • A case report in favor of a multistep adrenocortical tumorigenesis
    • Bernard MH, Sidhu S, Berger N, et al. A case report in favor of a multistep adrenocortical tumorigenesis. J Clin Endocrinol Metab. 2003;88(3):998-1001.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , Issue.3 , pp. 998-1001
    • Bernard, M.H.1    Sidhu, S.2    Berger, N.3
  • 42
    • 58849130174 scopus 로고    scopus 로고
    • Gender differences in genetic linkage and association on 11p15 in obsessive-compulsive disorder families
    • Wang Y, Samuels JF, Chang YC, et al. 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.
    • (2009) Am. J. Med. Genet. B. Neuropsychiatr Genet. , vol.150 B , Issue.1 , pp. 33-40
    • Wang, Y.1    Samuels, J.F.2    Chang, Y.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.