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The Study of DNA Mutations of Phenylketonuria in Koreans (한국인에서의 페닐케톤뇨증의 유전자변이에 대한 고찰)

  • Yoo, Su-Jung;Hong, Yong-Hee;Lee, Yong-Wha;Jung, Sung-Chul;Ki, Chang-Seok;Lee, Dong-Hwan
    • 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.

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Three Dimensional Quantitative Structure-Activity Relationship Analyses on the Fungicidal Activities of New Novel 2-Alkoxyphenyl-3-phenylthioisoindoline-1-one Derivatives Using the Comparative Molecular Similarity Indices Analyses (CoMSIA) Methodology Based on the Different Alignment Approaches (상이한 정렬에 따른 비교분자 유사성 지수분석(CoMSIA) 방법을 이용한 새로운 2-Alkoxyphenyl-3-phenylthioisoindoline-1-one 유도체들의 살균활성에 관한 3차원적인 정량적 구조와 활성과의 관계)

  • Sung, Nack-Do;Yoon, Tae-Yong;Song, Jong-Hwan;Jung, Hoon-Sung
    • The Korean Journal of Pesticide Science
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    • v.9 no.1
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    • pp.26-34
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    • 2005
  • 3D-QSAR studies for the fungicidal activities against resistance phytophthora blight (RPC; 95CC7303) and sensitive phytophthora blight (Phytopthora capsici) (SPC; 95CC7105) by a series of new 2-alkoxyphenyl-3-phenylthioisoindoline-1-one derivatives (A & B) were studieded using comparative molecular similarity indices analyses (CoMSIA) methodology. From the based on the results, the two CoMSIA models, R5 and S1: as the best models were derivated. The statistical results of the models showed the best predictability and fitness for the fungicidal activities based on the cross- validated value ($q^2=0.714{\sim}0.823$) and non cross-validated, value ($r^2_{ncv.}=0.918{\sim}0.954$), respectively. The model R5 for fungicidal activity of RPC generated from the field fit alignment and combination of electrostatic field, H-bond acceptor field and LUMO molecular orbital field. The model S1 (or S5) for fungicidal activity of SPC generated from the atom based fit alignment and combination of steric field and HOMO molecular orbital field. The models also shows that inclusion of H-bond acceptor field (A) improved the statistical significance of the models. From the based graphical analyses of CoMSIA contribution maps, it was revealed that the novel selective character for fungicidal activities between the two fungi by modify of X-sub-stituent on the N-phenyl group and R-substituent on the S-phenyl group will be able to achivement.

BD Andromedae의 주기 변화와 광도곡선 분석

  • Song, Mi-Hwa;Kim, Cheon-Hwi;U, Su-Wan;Yun, Yo-Ra;Han, Won-Yong;Bae, Tae-Seok;Jo, Yeong;Jin, Hye-Jin
    • The Bulletin of The Korean Astronomical Society
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    • v.36 no.1
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    • pp.30.1-30.1
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    • 2011
  • 2010년 11월 05일부터 11월 29일 중 총 12일간 진천 소재 충북대학교 천문대의 60cm 반사망원경과 ST-8 CCD 카메라를 이용하여 BD And의 BVR CCD 측광 관측을 수행하여 처음으로 BVR 광도 곡선을 완성하였다. 또한, 극심시각 결정을 위한 측광관측이 레몬산 천문대 1m 반사 망원경과 충북대학교 천문대의 35cm 망원경으로 수행되었다. 우리의 관측을 통하여 모두 19개의 극심시각을 새로이 결정하였다. 새로운 관측은 이 별의 공전주기가 이전까지 알려진 0.4629일이 아니라 그 두 배인 0.9258일이며, 기산점도 반주기 바뀌어야 함을 보여준다. BD And의 광도요소를 $MinI=HJD2434962.8602+0.^d9258054E$으로 새롭게 개정하였다. 이 광도요소로 작성한 우리의 BVR 광도곡선은 제1식과 제2식의 깊이가 거의 비슷하며, 식바깥 부분에 잘 발달된 파형 모양을 보인다. 이는 BD And가 짧은 주기의 RS CVn형 식쌍성임을 나타내는 것이다. 우리의 극심시각을 포함한 총 130개의 극심시각에 대한 (O-C)도를 작성한 결과, BD And의 공전주기가 규칙적으로 변화하는 것을 발견하였다. 이 변화를 보이지 않는 제3천체에 의한 광시간 효과로 가정하여, 궤도이심율이 0.78이며, 9.19년의 주기를 가진 광시간 궤도를 결정하였다. 우리의 광도곡선을 2003년 Wilson-Devinney 쌍성 모형으로 분석하여 광도곡선 해를 질량비 q=0.094, 궤도경사각 $i=85.^{\circ}4$, $T_1=6365(K)$, $T_2=6250(K)$, $R_1=1.132(Rsun)$, $R_2=1.304(Rsun)$와 같이 산출하였다. 식바깥에서 나타나는 파형 모양의 변화는 주성의 표면에 매우 큰 흑점으로 잘 설명되며, BVR 광도곡선에서 각전체 광도의 각 8.3%, 10.0%, 11.7%에 해당되는 제3 광도가 검출되었다. 이는 주기연구에서 제안된 제3천체의 존재 가능성을 더 공고히 한다.

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The Effects of Cellulose, Pectin and Starch on Standardized Ileal and Apparent Total Tract Amino Acid Digestibilities and Bacterial Contribution of Amino Acids in Feces of Growing Pigs

  • Ma, Q.G.;Metzler, B.U.;Eklund, M.;Ji, C.;Mosenthin, R.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.6
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    • pp.873-882
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    • 2008
  • Eight ileally cannulated pigs (BW $35.9{\pm}0.9kg$) were randomly allotted according to a $4{\times}3$ Latin square design to determine the effects of cellulose, pectin and starch on standardized ileal digestibility (SID) and apparent total tract digestibility (ATTD) of crude protein (CP) and amino acids (AA) as well as on the bacterial AA contribution in feces. The pigs were fed the control diet (20.2% CP, % dry matter (DM)) or one of the three experimental diets in which 25% of the control diet was substituted by cellulose, starch or pectin. Due to this substitution, dietary CP levels were lower in the cellulose (15.5% CP, % DM), pectin (15.4% CP, % DM) and starch diet (15.2% CP, % DM). Following a 15-d adaptation period, feces were collected for 5 d and ileal digesta for a total of 24 h. Starch increased SID of CP, while cellulose and pectin had no significant effect on the digestibility of CP. Overall, starch supplementation resulted in higher (p<0.05) SID values of histidine, isoleucine, threonine, alanine, aspartic acid, cysteine, glycine and serine compared with cellulose, while pectin decreased (p<0.05) SID of valine and proline compared with the starch and control diet. Both cellulose and pectin reduced (p<0.05) the ATTD of CP and AA, while starch decreased (p<0.05) ATTD of phenylalanine, alanine, proline and serine compared with the control. With regard to bacterial AA composition of the fecal mixed bacterial mass (MBM), cellulose supplementation increased (p<0.05) its content of N and almost all AA, except for valine, while pectin caused higher contents of arginine, histidine and proline compared with the control (p<0.05). The bacterial contribution of arginine in feces was higher (p<0.05) in the cellulose treatment, while pectin reduced (p<0.05) the bacterial contribution of leucine, alanine, glutamic acid and proline in feces compared with the control. In conclusion, the effects of cellulose, starch and pectin on SID were rather small. Bacterial activity in the large intestine can only explain the reduced ATTD values for arginine in the cellulose treatment, but not for the other AA in the cellulose and pectin treatments, suggesting higher endogenous losses of these AA in the large intestine.

Growth Environment and Vegetation Structure of Cephalotaxus koreana Nakai in South Korea Natural Habitats (국내 개비자나무 자생지 생육환경 및 식생구조)

  • Kim, Young Ki;Kim, Joon Seon;Lee, Kap Yeon;Kim, Moon Sup
    • Korean Journal of Plant Resources
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    • v.31 no.4
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    • pp.384-395
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    • 2018
  • This study was carried out to investigate the environment factors including community structure and soil characteristics in the wild habitats of Cephalotaxus koreana, and offers the basic information for habitats conservation and restoration. Most of the wild habitats were located at altitudes between 148~835 m with inclinations ranged as $12{\sim}32^{\circ}$. The average soil pH was 4.7~5.9, soil organic matter was 5.72~15.99%, cation exchange capacity was $14.1{\sim}19.9cmolc/kg^{-1}$ and exchangeable $K^+$, $Ca^{2+}$, $Mg^{2+}$ was 0.25~0.48 cmolc/kg, 0.79~6.68 cmolc/kg, 0.31~1.73 cmolc/kg, respectively. The dominant species of tree layer were found to be dominated by Quercus dentata in Jekbo-san (C1), Acer pictum in Bogae-san (C2), Acer pseudosieboldianum in Geumwon-san (C3), Q. serrata in Jiri-san (C4), Zelkova serrata in Baegun-san (C5), and Q. acutissima in Duryun-san (C6). The Species diversity (H') was 0.854~1.234, evenness (J') was 0.654~0.993, and dominance (D) was found to be 0.067~0.346. Correlation coefficients analysis based on environmental factors, community structure and value of species diversity shows that growth of Cephalotaxus koreana is correlated with species diversity and evenness. This result show that Cephalotaxus koreana habitats located in mature stands.

Factors Related to Poor School Performance of Elementary School Children (국민학교아동의 학습부진에 관련된 요인)

  • Park, Jung-Han;Kim, Gui-Yeon;Her, Kyu-Sook;Lee, Ju-Young;Kim, Doo-Hie
    • Journal of Preventive Medicine and Public Health
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    • v.26 no.4 s.44
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    • pp.628-649
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    • 1993
  • This study was conducted to investigate the factors related to the poor school performance of the elementary school children. Two schools in Taegu, one in the affluent area and the other in the poor area, were selected and a total of 175 children whose school performance was within low 10 percentile (poor performers) and 97 children whose school performance were within high 5 percentile (good performers) in each class of 2nd, 4th and 6th grades were tested for the physical health, behavioral problem and family background. Each child had gone through a battery of tests including visual and hearing acuity, anthropometry (body weight, height, head circumference), intelligence (Kodae Stanford-Binet test), test anxiety (TAI-K), neurologic examination by a developmental pediatrician and heavy metal content (Pb, Cd, Zn) in hair by atomic absorption spectrophotometry. A questionnaire was administered to the mothers for prenatal and prenatal courses of the child, family environment, child's developmental history, and child's behavioral and learning problems. Another questionnaire was administered to the teachers of the children for the child's family background, arithmatic & language abilities and behavioral problem. The poor school performance had a significant correlation with male gender, high birth order, broken home, low educational and occupational levels of parents, visual problem, high test anxiety score, attention deficit hyperactivity disorder (ADHD), poor physical growth (weight, height, head circumference) and low I.Q. score. The factors that had a significant correlation with the poor school performance in multiple logistic regression analysis were child's birth order (odds ratio=2.06), male gender(odds ratio=5.91), broken home(odds ratio=9.29), test anxiety score(odds ratio=1.07), ADHD (odds ratio=9.67), I.Q. score (odds ratio=0.85) and height less than Korean standard mean-1S.D.(odds ratio=11.12). The heavy metal contents in hair did not show any significant correlation with poor school performance. However the lead and cadmium contents were high in males than in females. The lead content was negatively correlated with child's grade(P<0.05) and zinc was positively correlated with grade (P<0.05). among the factors that showed a significant correlation with the poor school performance, high birth order, short stature and ADHD may be modified by a good family planning, good feeding practice for infant and child, and early detection and treatment of ADHD. Also, teacher and parents should restrain themselves from inducing excessive test anxiety by forcing the child to study and over-expecting beyond the child's intellectual capability.

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Identification of Genes Modulated by High Extracellular Calcium in Coculture of Mouse Osteoblasts and Bone Marrow Cells by Oligo Chip Assay

  • Kim, Hyung-Keun;Song, Mi-Na;Jun, Ji-Hae;Woo, Kyung-Mi;Kim, Gwan-Shik;Baek, Jeong-Hwa
    • International Journal of Oral Biology
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    • v.31 no.2
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    • pp.53-65
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    • 2006
  • Calcium concentration in the bone resorption lacunae is high and is in the mM concentration range. Both osteoblast and osteoclast have calcium sensing receptor in the cell surface, suggesting the regulatory role of high extracellular calcium in bone metabolism. In vitro, high extracellular calcium stimulated osteoclastogenesis in coculture of mouse osteoblasts and bone marrow cells. Therefore we examined the genes that were commonly regulated by both high extracellular calcium and $1,25(OH)_2vitaminD_3(VD3)$ by using mouse oligo 11 K gene chip. In the presence of 10 mM $[Ca^{2+}]e$ or 10 nM VD3, mouse calvarial osteoblasts and bone marrow cells were co-cultured for 4 days when tartrate resistant acid phosphatase-positive multinucleated cells start to appear. Of 11,000 genes examined, the genes commonly regulated both by high extracellular calcium and by VD3 were as follows; 1) the expression of genes which were osteoclast differentiation markers or were associated with osteoclastogenesis were up-regulated both by high extracellular calcium and by VD3; trap, mmp9, car2, ctsk, ckb, atp6b2, tm7sf4, rab7, 2) several chemokine and chemokine receptor genes such as sdf1, scya2, scyb5, scya6, scya8, scya9, and ccr1 were up-regulated both by high extracellular calcium and by VD3, 3) the genes such as mmp1b, mmp3 and c3 which possibly stimulate bone resorption by osteoclast, were commonly up-regulated, 4) the gene such as c1q and msr2 which were related with macrophage function, were commonly down-regulated, 5) the genes which possibly stimulate osteoblast differentiation and/or mineralization of extracellular matrix, were commonly down-regulated; slc8a1, admr, plod2, lox, fosb, 6) the genes which possibly suppress osteoblast differentiation and/or mineralization of extracellular matrix, were commonly up-regulated; s100a4, npr3, mme, 7) the genes such as calponin 1 and tgfbi which possibly suppress osteoblast differentiation and/or mineralization of extracellular matrix, were up-regulated by high extracellular calcium but were down-regulated by VD3. These results suggest that in coculture condition, both high extracellular calcium and VD3 commonly induce osteoclastogenesis but suppress osteoblast differentiation/mineralization by regulating the expression of related genes.

True Digestibility of Phosphorus in Different Resources of Feed Ingredients in Growing Pigs

  • Wu, X.;Ruan, Z.;Zhang, Y.G.;Hou, Y.Q.;Yin, Y.L.;Li, T.J.;Huang, R.L.;Chu, W.Y.;Kong, X.F.;Gao, B.;Chen, L.X.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.1
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    • pp.107-119
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    • 2008
  • To determine the true digestible phosphorus (TDP) requirement of growing pigs, two experiments were designed with the experimental diets containing five true digestible P levels (0.16%, 0.20%, 0.23%, 0.26% and 0.39%) and the ratio of total calcium to true digestible P (TDP) kept at 2:1. In Experiment 1, five barrows (Duroc${\times}$Landrace${\times}$Yorkshire) with an average initial body weight of 27.9 kg were used in a $5{\times}5$ Latin-square design to evaluate the effect of different dietary P levels on the digestibility and output of P and nitrogen. In Experiment 2, sixty healthy growing pigs (Duroc${\times}$Landrace${\times}$Yorkshire) with an average body weight (BW) of 21.4 kg were assigned randomly to one of the five dietary treatments (12 pigs/diet), and were used to determine the true digestible phosphorus (TDP) requirement of growing pigs on the basis of growth performance and serum biochemical indices. The results indicated that the true digestibility of P increased (p<0.05) linearly with increasing dietary TDP level below 0.26%. The true P digestibility was highest (56.6%) when dietary TDP was 0.34%. Expressed as g/kg dry matter intake (DMI), fecal P output increased (p<0.05) linearly with increasing P input. On the basis of g/kg fecal dry matter (DM), fecal P output was lowest for Diet 4 and highest (p<0.05) for Diet 5. The apparent digestibility of crude protein (CP) did not differ (p>0.05) among the five diets, with the average nitrogen output of 12.14 g/d and nitrogen retention of 66% to 74% (p>0.05), which suggested that there was no interaction between dietary P and CP protein levels. During the 28-d experimental period of Experiment 2, the average daily gain (ADG) of pigs was affected by dietary TDP levels as described by Eq. (1): $y=-809,532x^4+788,079x^3-276,250x^2+42,114x-1,759$; ($R^2=0.99$; p<0.01; y = ADG, g/d; x = dietary TDP, %), F/G for pigs by Eq. (2): $y=3,651.1x^4-3,480.4x^3+1,183.8x^2-172.5x+10.9$ ($R^2=0.99$; p<0.01; y = F/G; x = dietary TDP, %), and Total P concentrations in serum by Eq. (3): $y=-3,311.7x^4+3,342.7x^3-1,224.6x^2+195.6x-8.7$ (R2 = 0.99; p<0.01; y = total serum P concentration and x = dietary TDP, %). The highest ADG (782 g/d), the lowest F/G (1.07) and the highest total serum P concentration (3.1 mmol/L) were obtained when dietary TDP level was 0.34%. Collectively, these results indicate that the optimal TDP requirement of growing pigs is 0.34% of the diet at a total Ca to TDP ratio of 2:1.

Improving Oxygenation in the Murine Tumors by a perfluorochemical Emulsion (Fluosl-DA $20\%$ (Carbogen 흡입하에서 Fluosol-DA 20%의 투여가 이식동물 종양의 산소분압에 미치는 영향)

  • Lee Intae;Kim Gwi E.;Song Chang W.
    • Radiation Oncology Journal
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    • v.8 no.1
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    • pp.1-6
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    • 1990
  • In the present study, a perfluorchemical emulsion (Fluosol-DA $20\%$) did not alter $D_o\;and\;D_q$ values on cell survival curve, indicating that the lack of a direct effect of Fluosol-DA $20\%$ on cellular radiosensitivity in vitro. The effect of Fluosol-DA $20\%$ injection in combination with carbogen breathing was determined on the hypoxic cell fraction in SCK tumors. The hypoxic cell fraction in control SCK tumors was 0.39. This value decreased to 0.05 when the mice were i.v. injected with 12 ml/kg of Fluosol-DA $20\%$ in a carbogen atomosphere. The measured mean and median $PO_2$ values with a microelectrode in the control tumors was 9 mmHg and 4 mmHg, respectively. The treatment of the SCK tumors in the host mice with injected Fluosol-DA $20\%$ in combination with carbogen breathing increased the mean and median $PO_2$ values to 67 mmHg and 62 mmHg, respectively. Using carbogen breathing alone caused a moderate increase of tumor $PO_2$. But Fluosol-DA $20\%$ injection alone caused little change $PO_2$ in the tumor. It was concluded that the combination of Fluosol-DA injection and carbogen breathing is an effective means to improve oxygenation of tumors.

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Biological and molecular characterization of feline caliciviruses isolated from cats in South Korea

  • Yang, Dong-Kun;Park, Yu-Ri;Yoo, Jae Young;Choi, Sung-Suk;Park, Yeseul;An, Sungjun;Park, Jungwon;Kim, Heui-Jin;Kim, Jongho;Kim, Ha-Hyun;Hyun, Bang-Hun
    • Korean Journal of Veterinary Research
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    • v.60 no.4
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    • pp.195-202
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    • 2020
  • Feline calicivirus (FCV) infection results in a common upper respiratory disease associated with oral ulceration in cats. Although FCV infection has been reported in cats worldwide, the biologic and genetic features of South Korean FCV are unclear. We aimed to investigate the biological and genetic features of South Korean FCV isolates. Crandell-Rees feline kidney (CRFK) cells were used to isolate FCV from 58 organ homogenate samples. The FCV isolates were confirmed by cytopathic effects, immunofluorescence, electron microscopy, and reverse transcription polymerase chain reaction assays. Viral genetic analysis was carried out with VP2 gene and complete genomes of FCVs. Five viruses propagated in CRFK cells were confirmed to be FCVs. The FCV17D283 isolate showed the highest viral titer of 107.2 TCID50/mL at 36 h post-inoculation. Korean FCV isolates did not grow well in Vero, BHK-21, A72, or Madin-Darby canine kidney cells. The FCV17D03 and FCV17D283 isolates had the highest genetic similarity (80.1% and 86.9%) with the UTCVM-H1 and 14Q315 strains, which were isolated in the United States and South Korea in 1995 and 2014, respectively. We isolated five FCVs from cats and detected important genetic differences among them. FCV isolates did not show any virulent effects in mice.