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The first successful prenatal diagnosis on a Korean family with citrullinemia.

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dc.contributor.authorHong, KM-
dc.contributor.authorPaik, MK-
dc.contributor.authorYoo, OJ-
dc.contributor.authorHahn, SH-
dc.date.accessioned2011-08-09T01:51:38Z-
dc.date.available2011-08-09T01:51:38Z-
dc.date.issued2000-
dc.identifier.issn1016-8478-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/3706-
dc.description.abstractDNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene. They had a previous child with citrullinemia who died in the week after birth owing to complicated hyperammonemia. The lost child turned out to be a compound heterozygote. DNA was extracted from the cultured amniotic cells after amniocentesis done at 18-week gestation. For the detection of the G324S mutation, the PCR and restriction fragment length polymorphism method was used, and for the IVS6-2A > G mutation, allele-specific PCR was performed. The fetus was found to carry G324S but not IVS6-2A > G, suggesting a heterozygote carrier. Pregnancy was continued and a healthy boy was born. Plasma amino acid analysis performed on the third day after birth was normal and the serial ammonia level was in the normal range. A molecular study on his genomic DNA after birth also agreed with the previous fetal DNA analysis. He is now 2-months old with normal growth and development.-
dc.language.isoen-
dc.subject.MESHAdult-
dc.subject.MESHAmniocentesis-
dc.subject.MESHCitrullinemia-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHFamily Health-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Testing-
dc.subject.MESHHeterozygote-
dc.subject.MESHHumans-
dc.subject.MESHInfant, Newborn-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHPedigree-
dc.subject.MESHPregnancy-
dc.subject.MESHPrenatal Diagnosis-
dc.titleThe first successful prenatal diagnosis on a Korean family with citrullinemia.-
dc.typeArticle-
dc.identifier.pmid11211875-
dc.contributor.affiliatedAuthor한, 시훈-
dc.type.localJournal Papers-
dc.citation.titleMolecules and cells-
dc.citation.volume10-
dc.citation.number6-
dc.citation.date2000-
dc.citation.startPage692-
dc.citation.endPage694-
dc.identifier.bibliographicCitationMolecules and cells, 10(6). : 692-694, 2000-
dc.identifier.eissn0219-1032-
dc.relation.journalidJ010168478-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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