• Pediatric Infection and Vaccine
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• v.12 no.1
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• pp.52-60
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• 2005

Purpose : The aim of this study is to know seasonal distribution of group A streptococci obtained from one center using emm genotyping and T serotyping in Masan from 2003 through 2004. Methods : Among children who visited the Changwon Fatima Hospital at Masan, Korea from June 2003 through February 2004, 100 patients who had clinical findings of acute pharyngitis, scarlet fever, and cellulitis were confirmed as GAS by culture, and were enrolled in our study. All obtained GAS were sent to the WHO Collaborative Center for Reference and Research on Streptococci, University of Minnesota, Minneapolis for T serotyping and emm genotyping. We classified these results again according to seasonal and disease's entities. Results : 19 different T serotypes was typed. T4(27.5%), T1(17.6%), T6(13.7%), and T12(13.7%) serotypes were relatively common in summer, while T4(28.3%), T12(15.2%), and T12/B3264(8.7%) were common in winter. T4 and T12 were persistent all year around. Distribution of T serotypes in 89 patients with pharyngotonsillitis were T4(26.7%), T12(14.0%), T1(12.8%), and T6(11.6%) in order of frequency. 15 different emm genotypes was typed. The number of emm 1, emm 6, emm 9, and emm 44 genotypes decreased or disappeared in winter, and the number of emm 3, emm 12, and emm 89 genotypes increased or reappeared in winter. Conclusion : Because T serotyping and emm genotyping are useful tools for evaluating epidemiology and pathogenesis of group A streptococci, we should monitor these strains every year, and should serotype and genotype GAS obtained from the invasive streptococcal infections.

• Journal of Embryo Transfer
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• v.30 no.3
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• pp.183-188
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• 2015

This study analyzed the coat color-related genes of MC1R, ASIP, ECA3-inversion, and STX17 of 1,462 Jeju horses administered by the Jeju Special Self-Governing Province. This was done to investigate the distributional characteristics of coat color-related genes in the Jeju horse group and the changes of its coat color-related genes by generation. The genotype frequency of the MC1R gene of $E^+/E^+$ and $E^+/E^e$ related to black coat color was 0.122 and 0.447, respectively, while $E^e/E^e$ of the chestnut genotype was 0.429. The genotype frequency of the ASIP gene of $A^A/A^A$, $A^A/A^a$, and $A^a/A^a$ was 0.46, 0.448, and 0.091, respectively, where the genotype frequency of $A^a/A^a$ turned out to be relatively low. The To/To and +/To genotype that manifests the Tobiano shape was 0.001 and 0.119, respectively, with the share of Tobiano shape around 12%. The genotype frequency of G/G and G/g of STX17 related to grey coat color was 0.002 and 0.680, respectively, with the share of grey horses among the Jeju horse group at 68.2%. As for the change of coat color genes by generation, no large changes were observed in the MC1R and ASIP genes. In ECA3-inversion, the To allele that manifests Tobiano significantly decreased following the generational change (p<0.05), while the STX17 G allele related to grey coat color significantly increased following the generational change (p<0.05). It will be necessary to examine the coat color genes when selecting breeding horses so that the diversity of coat colors among the Jeju horse group can be maintained.

• Korean Journal of Agricultural Science
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• v.20 no.1
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• pp.56-67
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• 1993

To applying of genetic markers of milk proteins as dairy cow registration and selection aids for genetic improvement, genopypes controlling the 4 milk protein loci, ${\alpha}S1$-casein (${\alpha}S1$-CN), ${\beta}$-casein(${\beta}$-CN), ${\kappa}$-casein(${\kappa}$-CN), and ${\beta}$-lactoglobulin(${\beta}$-LG), from a total of 159 Holstein lactating cows reared at National Animal Breeding Station in 1992 were detected by polyacrylamide gel(PAGE) electrophoresis, and associations between genetic polymorphisms of milk proteins and milk compositions were analyzed. The observed distribution of phenotypes for ${\alpha}S1$-CN, ${\beta}$-CN, ${\kappa}$-CN and ${\beta}$-LG were agreement with those expected under the assumption of genetic equilibrium. The observed genotypic frequencies of the ${\alpha}S1$-CN BB, ${\beta}$-CN AA, ${\kappa}$-CN AA and ${\beta}$-LG AB genotypes were founded to be very high as 79.87%, 84.28%, 71.70% and 49.10%, respectively. Gene frequencies were 0.899 and 0.101 for ${\alpha}S1-CN^B$ and ${\alpha}S1-CN^C$, 0.921 and 0.079 for ${\beta}-CN^A$ and ${\beta}-CN^B$, 0.837 and 0.163 for ${\kappa}-CN^A$ and ${\kappa}-CN^B$, 0.378 and 0.622 for ${\beta}-LG^A$ and ${\beta}-CN^B$. According to the results of analysis of variance, the genotypes of the ${\alpha}S1-CN$, ${\beta}-CN$, ${\kappa}-CN$ and ${\beta}-LG$ were significantly difference for fat, protein and total solid percentage in milk compositions. On milk compositions, the ${\kappa}$-CN BB genotype was very high fat and protein percentage more than ${\kappa}$-CN AA and AB genotypes, and ${\beta}$-LG AA genotype was very high fat percentage more than ${\beta}$-LG AB and BB genotype at 5% level of significant difference, respectively. As a consequence, the fat and protein percentage may be improved to select to ${\kappa}$-CN BB and ${\beta}$-LG AA genotypes.

• Tuberculosis and Respiratory Diseases
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• v.44 no.3
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• pp.534-546
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• 1997

Background : The p53 and retinoblastoma(Rb) tumor suppressor genes are associated with the pathogenesis of several types of human cancer. Substantial proportion of the primary lung cancers or cell lines have been reported to have the p53 and/or the Rb gene mutations. But, so far there is no report on the analysis of the Rb gene polymorphism as one of the genetic susceptibility marker. This study was undertaken to establish the gene frequencies of the polymorphic genotypes of the p53 and Rb genes in Koreans to evaluate the possible involvement of these genotypes as a risk factor of lung cancer. Methods : In this study 145 controls without previous and present tumor history and 128 lung cancer patients were subjected to analysis. The two intragenic polymorphisms of the p53 gene(exon 4/ AccII, intron 6/MspI) and one intron 17/XbaI polymorphism of the Rb gene were analysed by the method of polymersae chain reaction- restriction fragment length polymorphisms(PCR-RFLPs). The genotype of the intron 3/16 bp repeat polymorphism of p53 was determined by PCR and direct gel electrophoresis. Results : There were no significant differences in the genotype distributions of the p53 gene between lung cancer patients and controls. But heterozygotes(Arg/Pro) of the exon 4/AccII polymorphisms were slightly over-represented than controls, especially in the Kreyberg type I cancer, which was known to be associated with smoking. The intron 3/16 bp duplication and the intron 6/MspI polymorphisms were in complete linkage disequilibrium. About 95% of the individuals were homozygotes of the common alleles both in the 16 duplication and MspI polymorphisms, and no differences were deteced in the genotype distributions between lung cancer patients and controls. Overall genotype distributions of the Rb gene polymorphisms between lung cancer patients and controls were not significantly different However, the genotype distributions in the Kreyberg type I cancer were significantly different from those of controls(p = 0.0297) or adenocarcinomas(p = 0.0008). It was noticeable that 73.4% of the patients with adenocarcinomas were heterozygotes(r1/r2) whereas 39.2% of the Kreyberg type I cancer were heterozygous at this polymorphisms. In the lung cancer patients, significant differences were also noted between the high dose smokers and low dose smokers including non-smokers(p = 0.0258). The relative risk to Kreyberg type I cancer was significantly reduced in the individuals with the genotype of r1/r2(odds ratio = 0.46, 95% C.I. = 0.25-0.86, p = 0.0124). The combined genotype distribution of the exon 4 AccII of the p53 and the intron 17 Rb gene polymorphisms in Kreyberg type I cancers were significantly different from dose of controls or adenocarcinomas. The highest odds ratio were observed in the individuals with the genotypes of Arg/Pro and r2/r2(odds ratio = 1.97,95% C.I. = 0.84-4.59) and lowest one was in the patients with Arg/Arg, r1/r2 genotype(odds ratio = 0.54, 95% C.I. = 0.25-1.14). Conclusion : The p53 and the Rb gene polymorphisms modulate the risk of smoking induced lung cancer development in Koeans. However, the exact mechanism of risk modulation by these polymorphism remains to be determined. For more discrete clarification of associations between specific genotypes and lung cancer risk, the evaluations of these polymorphisms in other ethnics and more number of patients will be needed.

• Food Science of Animal Resources
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• v.24 no.4
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• pp.355-360
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• 2004

In Korean beef market, one of the major problems is mislabeling or fraudulent distribution of Holstein dairy meat or imported beef as domestic Hanwoo meat. Therefore, there has been a great need for a development of technology to identify beef breeds in meat and meat products. This study was carried out to develop the accurate and reliable method for the identification of beef breed using PCR-RFLP marker of MC1R, MGF and TYRPl genes affecting coat colors in cattle. A single base substitution (G\longrightarrowT transition) at the codon for amino acid position 104 of MC1R gene was identified between Hanwoo and Holstein and Angus breeds. The change at this position creates Msp I restriction site in Holstein and Angus, but not in Hanwoo. When the DNA amplified products (537 bp) was digested with Msp I, Hanwoo meat showed a single band of 537bp, while two fragments of 329bp and 208 bp were observed in Holstein meat and Angus breed, respectively. Thus, breed-specific RFLP marker in the MC1R gene can be used to distinguish between Hanwoo meat and Holstein and Angus meats. In the RFLP genotype of MGF gene, the frequency of r/r type was 75％ in Manwoo, whereas the frequency of R/R was 80％ in Hereford breed. Holstein and Angus breeds showed 100％ for R/r type. Therefore, Hanwoo meat showed significant difference in the MGF genotype frequencies compared with those of Holstein meat and imported beef cattle breeds. However, TYRP1 gene showed the same genotype in all breeds examined. Thus, this TYRP1 gene can not be used as a molecular marker for breed identification. As a consequence, we suggest that RFLP markers of the MC1R and MGF coat color genes could be used as DNA marker for identification of Hanwoo meat from Holstein and imported meats.

• Clinical and Experimental Reproductive Medicine
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• v.35 no.1
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• pp.69-76
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• 2008

Objective: The purposes of this study were to determine the distribution of follicle-stimulating hormone receptor (FSHR) genotypes in infertile Korean women and to evaluate the relationship between FSHR genotypes and clinical outcomes of IVF-ET cycles. Methods: Genomic DNA was extracted from peripheral blood in 1, 020 of infertile Korean women. Genotypes of FSHR at Thr307Ala (T/A) and Asn680Ser (N/S) were screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Clinical outcomes related to the genotypes of FSHR were evaluated in IVF-ET cycles (n=302) with controlled ovarian hyperstimulation (COH) of infertile women under 40 years old. Results: In a population of 1, 020 infertile Korean women, the frequency of TT/NN, TA/NS and AA/SS for the major variant Thr307Ala and Asn680Ser was 44.80%, 41.96% and 10.49%, respectively. There was no significant difference in characteristics of ovarian response and clinical pregnancy rate among the major genotypes of FSHR in IVF-ET cycles with COH. However, implantation rate of AA/SS patients was significantly higher than that of TT/NN patients (24.5% vs 15.7%, p<0.05). Conclusion: This study showed that FSHR genotype was not directly associated with ovarian response in IVF-ET cycles with COH. The relationship between clinical outcomes and FSHR genotypes of patients should be substantiated by further studies.

• Korean Journal of Agricultural Science
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• v.36 no.2
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• pp.167-177
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• 2009

This study was conducted to characterize the DGAT1 gene in Korean Holstein dairy cattle population and examine the relationship of DGAT1 polymorphisms with milk yield and milk fat yield for the genetic improvement of Korean Holstein dairy cattle. Results indicated that the 411 bp PCR products were successfully amplified by DGAT1 specific primers. Sequence analysis indicated that the DGTA1 Q allele had AUG (Lysine, K) nucleotide sequences in 216-218 bp and q allele had GCG (Alanine, A) sequences in the same position. Nucleotide sequence homology between the DGAT1 sequences generated in this study showed 100% homology with bovine DGAT1 sequences in the NCBI database. The genotype frequencies of DGAT1 QQ, Qq, and qq were 16.43, 36.43, and 47.14%, respectively, in Korean Holstein dairy cattle population. The observed Q and q allele frequencies were 0.35 and 0.65, respectively. Statistically significant (P<0.05) results were identified for milk yield and milk fat yield for the DGAT1 genotypes. The Qq genotype Holsteins have significantly higher milk yield and milk fat yield than those of the QQ and qq genotype Holsteins(P<0.05).

• Biomedical Science Letters
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• v.4 no.1
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• pp.11-25
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• 1998

The HLA genes located in the short arm of chromosome 6 specify heterodimeric glycoproteins involved in the regulation of the immune response. Recently, in the elucidation of HLA polymorphism, serological and cellular typing methods have been replaced by DNA typing using polymerase chain reaction (PCR). The purpose of this study was to establish the HLA DNA typing methods and determine gene frequencies of HLA molecules in Koreans. PCR-SSP (sequence specific primers) and PCR-RFLP (restriction fragment length polymorphism) techniques were used for the analysis of HLA-A, -B, -C, DRBl genes and HLA-DQAl, DQBl, DPBl genes, respectively. The results of B-lymphoblastoid cells used for control experiment were consistent with the previous data identified in the 11th International Histocompatibility Workshop. Seventeen, 23, 16, 8, 16, 13 and 37 types of HLA-A, B, C, DQAl, DQBl, DPBl and DRBl alleles were found, respectively, in a total of unrelated 120 Korean individuals. The most frequent HLA alleles were $A^*$02 (27.0%), B$^*$40 (17.6%), Cw$^*$01 (19.2%), DQAl$^*$0301 (32.1%), DQBl$^*$0303 (12.9%), DPBl$^*$0501 (31.3%) and DRBl$^*$1501 (9.2%) among Koreans. This study shows that DNA typing method using PCR technique is a relatively simple, fast and practical tool for the determination of the HLA-class I and II genes. Moreover, the data of HLA gene frequencies could be useful for the Korean database before clinical applications, including organ and unrelated bone marrow transplantation, anthropological study, disease association and individual identification.

• Journal of Periodontal and Implant Science
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• v.33 no.4
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• pp.747-753
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• 2003

면역글로불린의 Fc 부분에 대한 수용기인 $Fc{\gamma}R$는 세균에 대한 인식, 결합과 포식작용과정에서 중요한 역할을 한다. 이 $Fc{\gamma}R$에서 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자 다형성이 치의학 분야에서 연구되고 있다. $Fc{\gamma}R$IIa에서는 두 번째 세포외 면역글로불린 유사 영역의 131번째 아미노산에서 아르기닌($Fc{\gamma}R$IIa-R131) 혹은 히스티딘($Fc{\gamma}R$IIa-H131)을 갖고 있으며, $Fc{\gamma}R$IIIa에서는 두번째 세포외 영역의 158번째 아미노산이 발린($Fc{\gamma}R$IIIa-158V) 혹은 페닐알라닌($Fc{\gamma}R$IIIa-158F)을 갖고 있다. $Fc{\gamma}R$IIIb에서는 첫 번째 세포외 면역글로불린 유사영역의 4개의 아미노산의 유전자 다형성으로 인해서 $Fc{\gamma}R$IIIb-NA1과 $Fc{\gamma}R$IIIb-NA2의 두가지 유전자 다형성을 보이고 있다. 이번 연구는 치주적으로 건강한 한국인에서 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb에 대한 유전자형의 분포를 조사하고자 한 것으로 서울대학교 치과병원에 근무하는 치과의사, 치과위생사, 간호조무사 및 서울대학교 치과대학 4학년 학생 중 치주낭 깊이와 부착소실이 4mm 이하인 치주적으로 건강한 한국인 65명을 대상으로 하였다. $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자 다형성은 분리한 DNA에 각 대립유전자에 특이성을 지닌 primer를 넣고 PCR(polymerase Chain Reaction)법을 이용하여 증폭시킨후 전기영동법을 이용하여 각 대립유전자의 존재를 확인함으로써 결정하였다. $Fc{\gamma}R$IIa의 유전자 다형성은 R/R131, R/H131, H/H131의 유전자형에 대하여 각각 7.7%, 38.5%, 53.8%의 분포를 보였으며, $Fc{\gamma}R$IIIa의 158V/V, 158V/F, 158F/F 유전자형에 대하여 각각 7.7%, 35.4%, 56.9%의 분포를 보였다. 또한 $Fc{\gamma}R$IIIb의 NA1/NA1, NA1/NA2, NA2/NA2 유전자형은 각각 33.9%, 53.8%, 12.3%의 분포를 보였다. 이를 바탕으로 각 대립유전자의 발생빈도 계산한 결과 $Fc{\gamma}R$IIa의 R131과 H131이 26.9% 73.1%로 나타났으며, $Fc{\gamma}R$IIIa의 158V, 158F의 유전자형이 25.4%, 74.6%로 나타났다. $Fc{\gamma}R$IIIb의 NA1, NA2 유전자형의 발생빈도는 60.8%, 29.2%로 나타났다. 이번 연구는 치주적으로 건강한 한국인에서의 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb에 대한 유전자형의 분포를 조사한 것으로, 이후 치주질환자의 유전자형 분포와의 비교로 치주질환과 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자다형성과의 관련성에 관한 추가적인 연구가 필요할 것으로 여겨진다.

• Korean Journal of Agricultural Science
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• v.22 no.2
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• pp.163-169
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• 1995

This study was carried out to examine the genetic constitution of serum proteins and enzymes in Holstein Friesian cattle population. The genetic variants of post-transferrin-2(pTf-2), transferrin(Tf), post-albumin(pAlb), ceruloplasmin(Cp) and amylase-I(Am-I) were analyzed by using PAGE(polyacrylamide gel electrophoresis) and STAGE(starch gel electrophoresis). In serum proteins, the pTf-2 locus were observed to be controlled by codominant alleles designated F and S, and the distribution of genotypes were 76.34, 14.50 and 9.10% for pTf-2 FF, FS and SS types, respectively. The gene frequencies of the pTf-2 F and S allele were 0.836 and 0.164. The Tf locus were found to be controlled by four alleles, Tf A, D1, D2 and E at a single locus, and the distribution of genotypes were 6.11, 32.06, 19.08, 1.53, 10.69, 18.32, 9.92 and 2.29% for Tf AA, AD1, AD2, AE, D1D1, D1D2, D2D2 and D2E type, respectively. The gene frequencies of the Tf A, D1, D2 and E wee 0.321, 0.359, 0.298 and 0.019. The pAlb locus were identified to be genetically controlled by two alleles, pAlb F and S allele, and the distribution of genotypes were 32.06, 29.77 and 38.17% for pAlb FF, FS and SS types, respectively. The gene frequencies of the pAlb F and S allele were 0.461 and 0.531. The Alb locus were observed to be controlled by Alb A and B allele, and the gene frequencies of these were 0.996 and 0.004. In serum enzymes, the Cp locus were found to be controlled by F and S allele, and the distribution of genotypes were 46.57, 27.48 and 25.95% for Cp FF, FS and SS types, respectively. The gene frequencies of F and S allele were 0.603 and 0.394. The Am-I locus were observed to be controlled by Am-I B and C allele, and the distribution of genotypes were 39.69, 21.73 and 38.93% for Am-I BB, BC and CC types, the gene frequencies of Am-I B and C were 0.503 and 0.497, respectively.