PMID- 17596675
OWN - NLM
STAT- MEDLINE
DCOM- 20070809
LR  - 20240317
IS  - 1011-8934 (Print)
IS  - 1598-6357 (Electronic)
IS  - 1011-8934 (Linking)
VI  - 22
IP  - 3
DP  - 2007 Jun
TI  - Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by 
      simultaneous analysis of duplex-nested PCR and fluorescence in situ 
      hybridization: a case report.
PG  - 572-6
AB  - 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 mutation in the exon 9 
      of the OTC gene (R320X). We carried out nested polymerase chain reaction (PCR) 
      for R320X mutation and fluorescence in situ hybridization (FISH) for aneuploidy 
      screening. Among a total of 11 embryos, two blastomeres per embryo from 9 embryos 
      were biopsied and analyzed by duplex-nested PCR and FISH, and one blastomere per 
      embryo from 2 embryos by only duplex-nested PCR. As a result of PCR and 
      restriction fragment length polymorphism analysis, four embryos were diagnosed as 
      unaffected embryos having the normal OTC gene. Among these embryos, only one 
      embryo was confirmed as euploidy for chromosome X, Y and 18 by FISH analysis. A 
      single normal embryo was transferred to the mother, yielding an unaffected 
      pregnancy and birth of a healthy boy. Based on our results, PCR for mutation loci 
      and FISH for aneuploidy screening with two blastomeres from an embryo could 
      provide higher accuracy for the selection of genetically and chromosomally normal 
      embryos in the PGD for single gene defects.
FAU - Lee, Hyoung-Song
AU  - Lee HS
AD  - Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & 
      Women's Healthcare Center, Kwandong University College of Medicine, 1-19 
      Mukjeong-dong, Jung-gu, Seoul, Korea.
FAU - Jun, Jin Hyun
AU  - Jun JH
FAU - Choi, Hye Won
AU  - Choi HW
FAU - Lim, Chun Kyu
AU  - Lim CK
FAU - Yoo, Han-Wook
AU  - Yoo HW
FAU - Koong, Mi Kyoung
AU  - Koong MK
FAU - Kang, Inn Soo
AU  - Kang IS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Korea (South)
TA  - J Korean Med Sci
JT  - Journal of Korean medical science
JID - 8703518
RN  - 0 (Codon, Nonsense)
RN  - 0 (DNA Primers)
SB  - IM
MH  - Adult
MH  - Aneuploidy
MH  - Codon, Nonsense
MH  - DNA Primers
MH  - Exons
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant, Newborn
MH  - Male
MH  - *Ornithine Carbamoyltransferase Deficiency Disease
MH  - Polymerase Chain Reaction/*methods
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Preimplantation Diagnosis/*methods
PMC - PMC2693659
EDAT- 2007/06/29 09:00
MHDA- 2007/08/10 09:00
PMCR- 2007/06/01
CRDT- 2007/06/29 09:00
PHST- 2007/06/29 09:00 [pubmed]
PHST- 2007/08/10 09:00 [medline]
PHST- 2007/06/29 09:00 [entrez]
PHST- 2007/06/01 00:00 [pmc-release]
AID - 200706572 [pii]
AID - 10.3346/jkms.2007.22.3.572 [doi]
PST - ppublish
SO  - J Korean Med Sci. 2007 Jun;22(3):572-6. doi: 10.3346/jkms.2007.22.3.572.