• Journal of Genetic Medicine
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• v.5 no.1
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• pp.26-33
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• 2008

Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

• Pediatric Infection and Vaccine
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• v.17 no.1
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• pp.16-22
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• 2010

Purpose : We aimed to investigate the clinical and phylogenetic characteristics of Escherichia coli Urinary Tract Infections (E. coli UTI). Methods : We enrolled patients with culture-proven E. coli UTI, who were admitted at the study hospital from September 2008 to August 2009. We investigated clinical data of patients with E. coli UTI and characteristics of isolated E. coli strains. The phylogenetic groups were classified using triplex polymerase chain reaction (PCR), and the distribution of nine virulent genes was determined by multiplex PCR. Results : A total of 47 patients have participated in this study. Thirty (63.8%) were under 6 months; eight (17.0%) were between 6-12 months; and nine (19.1%) were over 12 months. We compared two age groups between under 6-month and over 6-month. In the age group under 6-month, higher proportion of male (P =0.002) and group B2 strains (P =0.020) were observed. In contrast, higher proportion of female and group non-B2 strains were observed in age group over 6-month. Frequencies of papC, papGII, papGIII, sfa/foc, hlyC, cnf1, fyuA, iroN and iucC were estimated as 68.1%, 57.4%, 42.6%, 46.8%, 46.8%, 31.9%, 87.2%, 48.9% and 63.8%, respectively. In the comparison of phylogenetic groups, group B2 showed higher distribution of virulent genes, while group D included more strains resistant to trimethoprim/sulfamethoxazole (TMP/SMZ) than other groups. Conclusion : We showed the age group-specific difference in the distribution of sex ratios and phylogenetic groups; more male and group B2 strains in age group under 6-month, while more female and group non-B2 in age group over 6-month. However, further evaluation including larger number of patients will be necessary to confirm above thesis in future molecular epidemiological studies.