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

Hong, KM; Paik, MK; Yoo, OJ; Hahn, SH
Molecules and cells, 10(6):692-694, 2000
Journal Title
Molecules and cells
DNA 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.
MeSH terms
AdultAmniocentesisCitrullinemia/*diagnosis/*geneticsDNA Mutational AnalysisFamily HealthFemaleGenetic Testing/methods/standardsHeterozygoteHumansInfant, NewbornKoreaMalePedigreePregnancyPrenatal Diagnosis/*standards
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
한, 시훈
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