• 대한한방부인과학회지
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• 제35권4호
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• pp.174-185
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• 2022

Objectives: The purpose of this study is to report the improvement of recurrent cervical intraepithelial neoplasia (CIN) and chief complaint including dysmenorrhea, premenstrual syndrome after Korean medicine treatment. Methods: The patient who diagnosed CIN even after undergoing two times of loop electrosurgical excision procedure (LEEP) and complained dysmenorrhea with premenstrual syndrome was treated by acupuncture, moxibustion and herbal medicine as Ojeok-san-gami-bang along with mistletoe extract injection (Abnobaviscum^®). The effect of treatment was evaluated by the results of liquid based cytology and HPV genotyping. Other symptoms were evaluated according to the patient's subjective complaint. Results: Before the treatment, the result of cytology was low grade squamous intraepithelial lesion and a low-risk group for HPV was detected. At the first examination after treatment, cytology showed negative for intraepithelial lesion or malignancy and the HPV genotyping was negative. The result showed negative findings in 3 consecutive follow-up tests. In addition, the chief complaint and general conditions were improved. Conclusion: This study shows that the recurrent cervical intraepithelial neoplasia (CIN) was improved after the Korean traditional treatment and it can be effective medical alternatives or options for patients receiving mistletoe injection during follow-up.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.7-13
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• 2022

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

• Animal Bioscience
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• 제36권7호
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• pp.1010-1021
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• 2023

Objective: Growth performance and growth-related traits have a crucial role in livestock due to their influence on productivity. This genome-wide association study (GWAS) in Pakistani dromedary camels was conducted to identify single nucleotide polymorphisms (SNPs) associated with growth at specific camel ages, and for selected SNPs, to investigate in detail how their effects change with increasing camel age. This is the first GWAS conducted on dromedary camels in this region. Methods: Two Pakistani breeds, Marecha and Lassi, were selected for this study. A genotyping-by-sequencing method was used, and a total of 65,644 SNPs were identified. For GWAS, weight records data with several body weight traits, namely, birthweight, weaning weight, and weights of camels at 1, 2, 4, and 6 years of age were analysed by using model-based growth curve analysis. Age-specific weight data were analysed with a linear mixed model that included fixed effects of SNP genotype as well as sex. Results: Based on the q-value method for false discovery control, for Marecha camels, five SNPs at q<0.01 and 96 at q<0.05 were significantly associated with the weight traits considered, while three (q<0.01) and seven (q<0.05) SNP associations were identified for Lassi camels. Several candidate genes harbouring these SNP were discovered. Conclusion: These results will help to better understand the genetic architecture of growth including how these genes are expressed at different phases of their life. This will serve to lay the foundations for applied breeding programs of camels by allowing the genetic selection of superior animals.

• Animal Bioscience
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• 제36권9호
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• pp.1357-1366
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• 2023

Objective: This study aimed to identify the single-nucleotide polymorphisms (SNPs) in the dual-specificity phosphatase 8 (DUSP8) and insulin-like growth factor 2 (IGF2) genes and to explore their effects on inosine-5'-monophosphate (IMP), inosine, and hypoxanthine contents in Korean native chicken -red-brown line (KNC-R Line). Methods: A total sample of 284 (males, n = 127; females n = 157) and 230 (males, n = 106; females, n = 124) aged of 10 weeks old KNC-R line was used for genotyping of DUSP8 and IGF2 genes, respectively. One SNP (rs313443014 C>T) in DUSP8 gene and two SNPs (rs315806609A/G and rs313810945T/C) in IGF2 gene were used for genotyping by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and KASP methods, respectively. The Two-way analysis of variance of the R program was used to associate DUSP8 and IGF2 genotypes with nucleotide contents in KNC-R chickens. Results: The DUSP8 (rs313443014 C>T) was polymorphic in KNC-R line and showed three genotypes: CC, CT, and TT. The IGF2 gene (rs315806609A/G and rs313810945T/C) was also polymorphic and had three genotypes per SNP, including GG, AG, and AA for the SNP rs315806609A/G and genotypes: CC, CT, and TT for the SNP rs313810945T/C. Association resulted into a strong significant association (p<0.01) with IMP, inosine, and hypoxanthine. Moreover, the significant effect of sex (p<0.05) on nucleotide content was also observed. Conclusion: The SNPs in the DUSP8 and IGF2 genes might be used as genetic markers in the selection and production of chickens with highly flavored meat.

• Animal Bioscience
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• 제37권2호
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• pp.184-192
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• 2024

Objective: This study aims to investigate the genetic structure and characteristics of the Angus cattle population in Hungary. The survey was performed with the assistance of the Hungarian Hereford, Angus, Galloway Association (HHAGA). Methods: Genetic parameters of 1,369 animals from 16 Angus herds were analyzed using the genotyping results of 12 microsatellite markers with the aid of PowerMarker, Genalex, GDA-NT2021, and STRUCTURE software. Genotyping of DNA was performed using an automated genetic analyzer. Based on pairwise identity by state values of animals, the Python networkx 2.3 library was used for network analysis of the breed and to identify the central animals. Results: The observed numbers of alleles on the 12 loci under investigation ranged from 11 to 18. The average effective number of alleles was 3.201. The overall expected heterozygosity was 0.659 and the observed heterozygosity was 0.710. Four groups were detected among the 16 Angus herds. The breeders' information validated the grouping results and facilitated the comparison of birth weight, age at first calving, number of calves born and productive lifespan data between the four groups, revealing significant differences. We identified the central animals/herd of the Angus population in Hungary. The match of our group descriptions with the phenotypic data provided by the breeders further underscores the value of cooperation between breeders and researchers. Conclusion: The observation that significant differences in the measured traits occurred among the identified groups paves the way to further enhancement of breeding efficiency. Our findings have the potential to aid the development of new breeding strategies and help breeders keep the Angus populations in Hungary under genetic supervision. Based on our results the efficient use of an upcoming genomic selection can, in some cases, significantly improve birth weight, age at first calving, number of calves born and the productive lifespan of animals.

• Tuberculosis and Respiratory Diseases
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• 제62권5호
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• pp.406-416
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• 2007

연구배경: 단일염기다형성(Single nucleotide polymorphism, SNP)은 인간의 유전자 서열 1000염기에 1개 빈도로 발견되어 인간은 대략 300만개의 유전자 다형성을 가지고 있다. 이 유전자 다형성의 조합결과로 인간의 개체 간 특성들이 결정되는 것으로 이해되고 있다. 이러한 다형성들의 조합양상에 따라 특이 질환에 대한 유전자 감수성 또한 달라지게 되므로 최근에는 많은 질환들과 유전자 다형성들과의 상관관계를 보는 연구들도 활발하게 진행되고 있다. 이러한 SNP분석은 큰 집단을 대상으로 진행되어 지므로 적은 비용으로 정확하게 그리고 대용량으로 분석할 수 있는 방법이 필요하다. 방 법: 대상 환자 89명의 genomic DNA를 가지고서 promotor상에 위치한 -37과 -524 염기부위에서 유전자 다형성을 보이는 것으로 보고되어져 있는 RRM1(ribonucleotide reductase M1) 유전자를 대상으로 PCR-RFLP(polymerase chain reaction-restriction fragment length polymorphism)와 real-time PCR(RTPCR, TaqMan probe assay)을 동시에 시행한 후 각각의 결과를 비교 분석하였다. 결 과: 대상 DNA 89예 중 -37에서는 2예(2.17%), -524에서는 15예(16.26%)가 서로 다른 양상을 보였다. 결과 차이를 보인 샘플 17예를 대상으로 직접 염기서열 분석을 시행하여 본 결과, 17예 모두 RT-PCR에서 확인되었던 결과와 일치함을 확인할 수 있었다. 추가 샘플 138예를 대상으로 RT-PCR을 2회 연속 실행하여 genotyping을 해 본 결과 98%이상의 높은 일치율을 보였으며, 그중 10예를 무작위로 골라 직접 염기서열 분석을 시행하여 본 결과, 역시 100%일치, 높은 정확도를 보였고 이는 in-tube assay 방식으로 샘플의 오염을 최소화 할 수 있었으며 72 well based system(Corbett Research)을 이용함으로 1회 유전자 증폭반응을 통해 많은 검체를 한 번에 확인할 수 있어 매우 빠른 검사방법 이었다. 결 론: 큰 집단을 대상으로 다량의 SNP를 분석하기 위한 실험 방법으로는 RT-PCR이 신속하면서도 정확한 결과를 얻을 수 있는 방법으로 사료된다.

• Pediatric Infection and Vaccine
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• 제12권1호
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• pp.52-60
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• 2005

목 적 : 류마티스열이나 사구체신염과 같은 합병증의 집단발생 및 GAS 감염의 역학조사를 위해서는 감염균의 혈청형분석이 필수적이다. T 단백은 GAS의 역학적 상황을 이용하는데 유용하여 선별검사로 가장 많이 이용한다. 혈청형 검사의 단점을 보완하기 위해 최근 분자생물학적 방법을 이용하기 시작하였다. 중합효소연쇄반응으로 emm 유전자를 증폭하여 자동염기서열 분석기를 이용한 emm형별 분석이 최근에 보고가 되고 있다. 그래서 저자들은 emm 유전자를 이용한 자동염기서열 분석과 T 혈청학적 분석을 통하여 마산의 어느 한 센터에서 얻은 GAS의 계절별 분포에 대해서 알고자 하였다. 방 법 : 2003년 6월부터 2004년 2월까지 경남 마산시에 위치한 창원파티마병원에서 급성 인두염이나 성홍열 또는 봉소염이 의심되는 환아에게 인후배양을 시행하였고, 그 중 GAS로 동정된 100개의 균주를 분리하여 미국 미네소타대학의 WHO Collaborating Center on Group A Streptococci에 보내 T 항원형을 혈청학적 동정을 하였고 emm 유전자 분석을 하였다. 이 결과들을 다시 계절별과 질병별로 분류하였다. 결 과 : T단백 혈청형은 총 19종이 분리되었다. 계절별로 분류하면 여름철에는 빈도순으로 T4(27.5%), T1(17.6%), T6(13.7%), T12(13.7%)이 흔히 분리되었고, 겨울철에는 T4(28.3%), T12(15.2%), T12/B3264(8.7%)의 순서로 흔히 발생하였다. T4, T12는 계절별로 변화가 거의 없었다. 질환별로 분리하면 급성 인두염은 89례를 차지하였는데 T 혈청형을 빈도순으로 나열하면 계절별 분포에서와 마찬가지로 T4(26.7%), T12(14.0%), T1(12.8%), T6(11.6%) 순으로 전체 균주의 빈도순과 동일한 양상을 보였다. emm 유전자형은 총 15종류가 분류되었다. emm 1, emm 6, emm 9, emm 44는 겨울철에 많이 감소하거나 없어졌고, emm 3, emm 12, emm 89는 겨울철에 새로 생기거나 빈도가 비교적 많이 증가한 유전자형이었다. 급성 인두염에서 emm 유전자형을 빈도순으로 나열하면 계절별 분포에서와 마찬가지로 emm 4(26.7%), emm 22(18.6%), emm 1(12.8%), emm 6(11.6%)의 순서로 분리되었다. 결 론 : 2003년과 2004년에 걸쳐 조사한 T단백 혈청형과 emm 유전자형의 계절별 분포는 각각 19종과 15종으로 다양하게 분리되었다. 이 중 EM 내성과 관련이 있는 T 혈청형으로는 T12, T28, T4, T1, NT 등으로 알려져 있는데 이들의 비율이 전체의 56.7%를 차지하였다. 따라서 항생제 선택에 있어서 EM 내성률이 높다는 사실을 고려해야 한다. T 혈청형과 emm 유전자형의 분석이 GAS 질병의 역학과 병인을 연구하는데 도움이 되므로 앞으로 매년 감시를 해야하고, 특히 침습성 연쇄구균 감염으로부터 얻은 GAS을 T 혈청형 분석과 emm 유전자형 분석을 통해서 감시해야 하겠다.

• 한국응용약물학회:학술대회논문집
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• 한국응용약물학회 2006년도 Proceedings of The Convention
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• pp.51-66
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• 2006

The field of cytochrome P450 pharmacogenomics has progressed rapidly during the past 25 years. Recently, conjugating enzymes including sulfotransferase, acetyltransferase, glucuronosyltransferase and glutathione transferase have been also extensively studied. All the major human drug-metabolizing P450 enzymes and some conjugating enzymes have been identified and cloned, and the major gene variants that cause inter-individual variability in drug response and are related to adverse drug reactions have been identified. This information now provides the basis for the use of predictive pharmacogenomics to yield drug therapies that are more efficient and safer. Today, we understand which drugs warrant dosing based on pharmacogenomics to improve drug treatment. It is anticipated that genotyping could be used to personalize drug treatment for vast numbers of subjects, decreasing the cost of drug treatment and increasing the efficacy of drugs and health in general. It is assumed that such personalized P450 gene-based treatment which is so-called tailor(order)-made drug therapy would be relevant for 10-20% of all drug therapy in the future.

• 한국동물위생학회지
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• 제35권4호
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• pp.283-288
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• 2012

Streptococcus(S.) suis is a pathogen, causing meningitis, septicemia and sudden death in weaning piglets as well as fattening pigs. Using multiplex PCR method based S. suis capsular genes, 61 S. suis isolates was classified as serotypes 2, 7, 9 and untypable. Genotyping of S. suis isolates was analysed by PFGE pattern with treated Sma I restricted enzyme. Of the 61 S. suis, 25 (40.9%) were serotype 2, 6 (9.8%) were serotype 7, 5 (8.2%) were serotype 9, and 25 (40.9%) were untypable, respectively. Twenty four PFGE patterns were detected in this study and also PFGE patterns were classified according to serotype; serotype 2 was classified as 6 genotypes, serotype 7 was 5 genotypes, serotype 9 was 3 genotypes, and untypable was 11 genotypes, respectively.

• Asian Pacific Journal of Cancer Prevention
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• 제16권5호
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• pp.1935-1937
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• 2015

The potential association between the GSTM1 deletion polymorphism and risk of cervical cancer was investigated in Northeastern Thailand. DNA was extracted from buffy coat specimens of 198 patients with squamous cell carcinoma of the cervix and 198 age-matched healthy controls. Genotyping of the GSTM1 was conducted by using two PCR methods, a short- and a long-PCR. Distribution of the GSTM1 genotypes in between the cases and the controls was not significantly different (p>0.5 by ${\chi}^2$ test). The results suggest that the GSTM1 deletion polymorphism is not a risk factor for squamous cell carcinoma of the cervix in the northeast Thai women.