Clinical and Experimental Reproductive Medicine

  • 제40권4호
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  • Pages.163-168
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  • 2013
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  • 2233-8233(pISSN)
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  • 2233-8241(eISSN)
대한생식의학회 (The Korean Society for Reproductive Medicine)
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Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease

  • Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Kwandong University College of Medicine) ;
  • Kim, Min Jee (Laboratory of Reproductive Biology and Infertility, Kwandong University College of Medicine) ;
  • Ko, Duck Sung (Laboratory of Reproductive Biology and Infertility, Kwandong University College of Medicine) ;
  • Jeon, Eun Jin (Laboratory of Reproductive Biology and Infertility, Kwandong University College of Medicine) ;
  • Kim, Jin Young (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kang, Inn Soo (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
  • 투고 : 2013.11.29
  • 심사 : 2013.12.23
  • 발행 : 2013.12.31
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초록

Objective: Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of multiplex fluorescent polymerase chain reaction (PCR) followed by fragment analysis or sequencing using single lymphocytes. We performed six cycles of PGD for CMT1A and one cycle for CMT2F. Results: Two duplex and two triplex protocols were developed according to the available markers for each CMT1A couple. Depending on the PCR protocols, the amplification rates and ADO rates ranged from 90.0% to 98.3% and 0.0% to 11.1%, respectively. For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. In case of CMT1A, 60 out of 63 embryos (95.2%) were diagnosed and 13 out of 21 unaffected embryos were transferred in five cycles. Two pregnancies were achieved and three babies were delivered without any complications. In the case of CMT2F, a total of eight embryos were analyzed and diagnosed. Seven embryos were diagnosed as unaffected and four embryos were transferred, resulting in a twin pregnancy. Two healthy babies were delivered. Conclusion: This is the first report of successful pregnancy and delivery after specific PGD for CMT disease in Korea. Our PGD procedure could provide healthy babies to couples with a high risk of transmitting genetic diseases.

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참고문헌

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피인용 문헌

  1. Preimplantation genetic diagnosis vol.58, pp.11, 2013, https://doi.org/10.5124/jkma.2015.58.11.979
  2. Application of whole‐exome sequencing for detecting copy number variants in CMT1A/HNPP vol.90, pp.2, 2013, https://doi.org/10.1111/cge.12714
  3. Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population vol.13, pp.None, 2013, https://doi.org/10.1186/s13023-018-0779-5
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