title: Mutation analysis of Korean patients with citrullinemia.
abstract: Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia. All of the three patients had the splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly324Ser mutation and the other patient had a 67-bp insertion mutation in exon 15. The IVS6-2A>G mutation was reported to be found frequently in Japanese patients with citrullinemia, but Caucasian patients showed the extreme mutational heterogeneity. Although a limited number of Korean patients were studied, the IVS6-2A>G mutation appears to be one of the most frequent mutant alleles in Korean patients with citrullinemia. The Gly324Ser mutation identified in two patients also suggests the possible high frequency of this mutation in Korean patients as well.
authors.affiliation: Department of Biochemistry, Wonkwang University College of Medicine, Iksan, Korea. kmhong@wonkwang.ac.kr
authors.forename: K M
authors.initials: KM
authors.lastname: Hong
authors.forename: C H
authors.initials: CH
authors.lastname: Shin
authors.forename: Y B
authors.initials: YB
authors.lastname: Choi
authors.forename: W K
authors.initials: WK
authors.lastname: Song
authors.forename: S D
authors.initials: SD
authors.lastname: Lee
authors.forename: K I
authors.initials: KI
authors.lastname: Rhee
authors.forename: P
authors.initials: P
authors.lastname: Jang
authors.forename: G S
authors.initials: GS
authors.lastname: Pak
authors.forename: J K
authors.initials: JK
authors.lastname: Kim
authors.forename: M K
authors.initials: MK
authors.lastname: Paik
authors.forename: S H
authors.initials: SH
authors.lastname: Hahn
mesh_terms: D000483:Alleles; D001124:Argininosuccinate Synthase / Q000172:deficiency* / Q000235:genetics*; D020159:Citrullinemia / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D007438:Introns; D007723:Korea; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites
chemical_list: D022821:RNA Splice Sites; D001124:Argininosuccinate Synthase