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Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization : A Case Report 원문보기

Journal of Korean medical science : JKMS, v.22 no.3 = no.115, 2007년, pp.572 - 576  

Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) ,  Jun, Jin Hyun (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) ,  Choi, Hye Won (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) ,  Lim, Chun Kyu (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) ,  Yoo, Han-Wook (Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.) ,  Koong, Mi Kyoung (Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) ,  Kang, Inn Soo (Department of Obstetrics and Gynecology, Cheil General Hospital)

Abstract AI-Helper 아이콘AI-Helper

Ornithine transcarbamylase (OTC) deficiency is an X-linked co-dominant disorder. A couple, with a previous history of a neonatal death and a therapeutical termination due to OTC deficiency, was referred to our center for preimplantation genetic diagnosis (PGD). The female partner has a nonsense muta...

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참고문헌 (32)

  1. 1 Munne S Sultan KM Weier HU Grifo JA Cohen J Rosenwaks Z Assessment of numerical abnormalities of X, Y, 18 and 16 chromosomes in preimplantation embryos before transfer Am J Obstet Gynecol 1995 172 1191 1201 7726256 

  2. 2 Verlinsky Y Preimplantation genetic diagnosis J Assist Reprod Genet 1996 13 87 89 8688595 

  3. 3 Delhanty JD Chromosome analysis by FISH in human preimplantation genetics Hum Reprod 1997 12 11 Suppl 153 155 9433972 

  4. 4 Lim CK Jun JH Min DM Lee HS Kim JY Koong MK Kang IS Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience Prenat Diagn 2004 24 556 561 15300749 

  5. 5 Lim CK Min DM Lee HS Byun HK Park SY Ryu HM Kim JY Koong MK Kang IS Jun JH Improvement of pregnancy rate in preimplantation genetic diagnosis with FISH procedure by the laboratory optimization and experiences Korean J Fertil Steril 2004 31 29 39 

  6. 6 Gianaroli L Magli MC Ferraretti AP Munne S Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed Fertil Steril 1999 72 837 844 10560987 

  7. 7 Munne S Magli C Cohen J Morton P Sadowy S Gianaroli L Tucker M Marquez C Sable D Ferraretti AP Massey JB Scott R Positive outcome after preimplantation diagnosis of aneuploidy in human embryos Hum Reprod 1999 14 2191 2199 10469680 

  8. 8 Lissens W Sermon K Preimplantation genetic diagnosis: current status and new development Hum Reprod 1997 12 1756 1761 9308807 

  9. 9 Ray PF Handyside AH Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis Mol Hum Reprod 1996 2 213 218 9238682 

  10. 10 Malcov M Schwartz T Mei-Raz N Yosef DB Amit A Lessing JB Shomrat R Orr-Urtreger A Yaron Y Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy Fetal Diagn Ther 2004 19 199 206 14764971 

  11. 11 Lee HS Choi HW Lim CK Koong MK Kang IS Yoo HW Choi JH Jun JH Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis J Korean Med Sci 2006 21 794 799 17043408 

  12. 12 Lindgren V de Martinville B Horwich AL Rosenberg LE Francke U Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus Science 1984 226 698 700 6494904 

  13. 13 Horwich AL Fenton WA William KR Kalousek F Kraus JP Doolittle RF Konigsberg W Rogenberg LE Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase Science 1984 224 1068 1074 6372096 

  14. 14 Hata A Tsuzuki T Shimada K Takiguchi M Mori M Matsuda I Structure of the human ornithine transcarbamylase deficiency Am J Hum Genet 1988 48 212 222 

  15. 15 Pelet A Rotig A Bonaiti-Pellie C Rabier D Cormier V Toumas E Hentzen D Saudubray JM Munnich A Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency Hum Genet 1990 84 167 171 2298453 

  16. 16 Hudak ML Douglas Jones M Brusilow SW Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation J Pediatr 1985 107 712 719 4056969 

  17. 17 Tuchman M Jaleel N Morizono H Sheehy L Lynch MG Mutations and polymorphisms in the human ornithine transcarbamylase gene Hum Mutat 2002 19 93 107 11793468 

  18. 18 Yamaguchi S Brailey LL Morizono H Bale AE Tuchman M Mutation and polymorphisms in the human ornithine transcarbamylase (OTC) gene Hum Mutat 2006 27 626 632 16786505 

  19. 19 Ray PF Gigarel N Bonnefont JP Attie T Hamamah S Frydman N Vekemans M Frydman R Munnich A First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency Prenat Diagn 2000 20 1048 1054 11180228 

  20. 20 Verlinsky Y Rechitsky S Verlinsky O Strom C Kuliev A Preimplantation diagnosis for ornithine transcarbamylase deficiency Reprod Biomed Online 2000 1 45 47 12804198 

  21. 21 Yoo HW Kim GH Lee DH Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families J Inherit Metab Dis 1996 19 31 42 8830175 

  22. 22 Rechitsky S Freidine M Verlinsky Y Strom CM Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling) J Assist Reprod Genet 1996 13 115 124 8688583 

  23. 23 Thornhill AR Monk M Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination Mol Hum Reprod 1996 2 285 289 9238693 

  24. 24 Strom CM Ginsberg N Rechitsky S Cieslak J Ivakhenko V Wolf G Lifchez A Moise J Valle J Kaplan B White M Barton J Kuliev A Verlinsky Y Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis Am J Obstet Gynecol 1998 178 1298 1306 9662315 

  25. 25 Wu K Cuppens H Buyse I Decorte R Marynen P Gordts S Cassiman JJ Co-amplification of the cystic fibrosis delta F508 mutation with the HLA DQA1 sequence in single cell PCR: implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis Prenat Diagn 1993 13 1111 1112 7513888 

  26. 26 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 21 490 497 11438956 

  27. 27 Piyamongkol W Bermudez MG Harper JC Wells D Detailed investigation of factors influencing amplification efficiency and allele dropout in single cell PCR: implications for preimplantation genetic diagnosis Mol Hum Reprod 2003 9 411 420 12802048 

  28. 28 Choi HW Lee HS Lim CK Koong MK Kang IS Jun JH Reliability of the single cell PCR analysis for preimplantation genetic diagnosis of single gene disorders Korean J Fertil Steril 2005 32 293 300 

  29. 29 Dreesen J Jacobs L Bras M Herberg J Dumoulin JC Geraedts JP Evers JL Smeets HJ Multiplex PCR of polymorphic markers flanking the CFTR gene: a general approach for preimplantation genetic diagnosis of cystic fibrosis Mol Hum Reprod 2000 6 881 885 

  30. 30 Eftedal I Schwartz M Bendtsen H Andersen A Zieve S Single intragenic microsatellite preimplantation enetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples Mol Hum Reprod 2001 7 307 312 11228252 

  31. 31 Goossens V Sermon K Lissens W Vandervorst M Vanderfaeillie A De Rijcke M De Vos A Henderix P Van De Velde H Van Steirteghem A Liebaers I Clinical application of preimplantation genetic diagnosis for cystic fibrosis Prenat Diag 2000 20 571 581 

  32. 32 Lee HS Choi HW Lim CK Park SY Kim JY Koong MK Jun JH Kang IS Efficacy of duplex-nested PCR and fluorescent PCR in the preimplantation genetic diagnosis for Duchenne muscular dystrophy Korean J Fertil Steril 2005 32 17 26 

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