• Title/Summary/Keyword: 유전적 소인

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Analysis of Growth and Hematologic Characteristics of Endangered Korean Native Cattle (멸종위기의 백한우(체세포복제 포함)의 성장 및 혈액학적 특성 분석)

  • Kim, Hyun;Choe, Changyong;Seong, Hwan-Hoo
    • Journal of Embryo Transfer
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    • v.30 no.3
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    • pp.175-181
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    • 2015
  • The objective of this study was to monitor health conditions of genetically identical somatic cells cloned Korean white cattle, endangered indigenous cattle (EIC) and indigenous cattle (IC) by analysis of hematologic characteristics. Naturally ovulated oocytes and donor cells were used for somatic cell nuclear transfer (SCNT). Donor cells and enucleated oocytes were followed by electric fusion, chemical activation and surgical embryo transfer into the oviducts of surrogate females. Two recipients became pregnant; two maintained pregnancy to term, and one live cattle were delivered by caesarean section. The cloned Korean white cattle were genetically identical to the nuclear donor cattle. As a result, the mean values of RBC and platelet of cloned cattle and white cattle were significantly decreased by age (P<0.05). The mean values of RBC, HCT, MCV and MCHC between cloned cattle and IC of the same age (1~2 years) showed the statistical significance (P<0.05). Also, in the WBC of Korean white cattle, the estimated values were decreased according to the age from $12.0{\times}10^3/{\mu}l$ under 1 year to $11.0{\times}10^3/{\mu}l$ over 1 years respectively. Although clone-cattle had lower numbers of RBC than reference range, the most of RBC and WBC related heamatologic results of cloned cattle were not different when compared to reference range. This study suggests that cloned Korean white cattle derived from SCNT did not have remarkable health problems, at least in the growth pattern and hematological parameters. In addition, this study provides a valuable resource for further investigations of the preservation of rare genetic stocks underlying traits of interest in cattle.

Molecular Characterization of Clinically Isolated Staphylococcus aureus (인천지역에서 분리된 황색포도상구균의 분자생물학적 특성 분석)

  • Oh, Bo-Young;Kim, Jung-Hee;Gong, Young-Woo;Lee, Jae-Mann;Go, Jong-Myoung;Kim, Yong-Hee
    • Korean Journal of Microbiology
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    • v.44 no.4
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    • pp.305-310
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    • 2008
  • Staphylococcus aureus is one of the most significant pathogens and a causative agents of nosocomial infections. The emergence of methicillin resistant S. aureus (MRSA), in particular, has become a major clinical and epidemiological problems worldwide. In this study, we analyzed the toxin genes and investigated molecular epidemiological characteristics of S. aureus isolated from stools of diarrheal patients at the hospitals in Incheon. Of the 609 strains from 2,281 specimens, 173 strains retained enterotoxin; 68 isolates (39.30%), 100 isolates (57.80%) were classified to A and C type, respectively. In the antibiotic susceptibility, all of enterotoxin positive isolates were resistant to oxacillin. Eighty eight strains (50.86%) of 173 MRSA isolate possessed tsst gene, but eta and eth genes were not detected at all. In the detection of MRSA associated genes by PCR method, mecA genes were detected in 167 strains (96.53%). From the result of PFGE analysis, we classified tsst-positive MRSA to 10 types and 24 subtypes. Type A, H and F were the major strains comprised of 57.95% (51 strains), 10.22% (9 strains) and 9.09% (8 strains) respectively.

Genetic Effects of Molecular Markers Related to Carcass Traits in Hanwoo Cattle (한우 도체형질 관련 분자표지의 유전적 효과)

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • Journal of Life Science
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    • v.30 no.3
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    • pp.230-238
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    • 2020
  • Carcass traits are the most economically important traits in Hanwoo (Korean cattle). Recently, the development of the field of genomics has made it possible to identify DNA markers for the genetic evaluation of carcass and meat quality traits in beef cattle. The objective of this study was to assess the genetic effects of single nucleotide polymorphism (SNP) markers related to carcass traits by field evaluations in a commercial Hanwoo population. We evaluated 15 SNP markers (TG g.371T>C, APM1 g.1454G>A, FABP4 g.2834C>G, FABP4 g.3533T>A, FABP4 g.3691G>A, SCD g.10153A>G, SCD g.10329T >C, CPE g.601T>C, EDG1 g.166A>G, NPY g.4271T>C, GPD1 g.2766C>T, PDE1B g.17122A>G, PDE1B g.17507A>C, TNNT1 g.6650C>T, and RORC g.20152A>G) related to carcass traits in Hanwoo. Genotyping of these SNP markers was performed using PCR-RFLP analysis in Hanwoo steers (n = 1,536) to evaluate their association with carcass traits. Seven SNPs, APM1 g.1454G>, FABP4 g.3691G>A, SCD g.10153A>G, CPE g.601T>C, PDE1B g.17122A>G, TNNT1 g.6650C>T, and RORC g.20152A>G, were significantly associated with carcass traits such as marbling score (MS), backfat thickness (BF), musculus longissimus dorsi area (LDA), carcass weight (CW), meat grade (MG), meat color (MC), and maturity score (MA). The results suggest that these SNPs may be used as DNA markers for the selection of Hanwoo with higher meat quality.

A Newborn Case of Maple Syrup Urine Disease Type 1B Presenting with Lethargy and Central Apnea (기면과 중추성 무호흡으로 나타난 단풍시럽뇨병 Type 1B 신생아 1례)

  • Kang, Youngtae;Choi, Sung Hwan;Ko, Jung Min;Shin, Seung Han;Kim, Ee-Kyung;Kim, Han-Suk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.43-49
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    • 2018
  • Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

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Construction of Gene Network System Associated with Economic Traits in Cattle (소의 경제형질 관련 유전자 네트워크 분석 시스템 구축)

  • Lim, Dajeong;Kim, Hyung-Yong;Cho, Yong-Min;Chai, Han-Ha;Park, Jong-Eun;Lim, Kyu-Sang;Lee, Seung-Su
    • Journal of Life Science
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    • v.26 no.8
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    • pp.904-910
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    • 2016
  • Complex traits are determined by the combined effects of many loci and are affected by gene networks or biological pathways. Systems biology approaches have an important role in the identification of candidate genes related to complex diseases or traits at the system level. The gene network analysis has been performed by diverse types of methods such as gene co-expression, gene regulatory relationships, protein-protein interaction (PPI) and genetic networks. Moreover, the network-based methods were described for predicting gene functions such as graph theoretic method, neighborhood counting based methods and weighted function. However, there are a limited number of researches in livestock. The present study systemically analyzed genes associated with 102 types of economic traits based on the Animal Trait Ontology (ATO) and identified their relationships based on the gene co-expression network and PPI network in cattle. Then, we constructed the two types of gene network databases and network visualization system (http://www.nabc.go.kr/cg). We used a gene co-expression network analysis from the bovine expression value of bovine genes to generate gene co-expression network. PPI network was constructed from Human protein reference database based on the orthologous relationship between human and cattle. Finally, candidate genes and their network relationships were identified in each trait. They were typologically centered with large degree and betweenness centrality (BC) value in the gene network. The ontle program was applied to generate the database and to visualize the gene network results. This information would serve as valuable resources for exploiting genomic functions that influence economically and agriculturally important traits in cattle.

Comparative Analysis of Gut Microbiota among Broiler Chickens, Pigs, and Cattle through Next-generation Sequencing (차세대염기서열 분석을 이용한 소, 돼지, 닭의 장내 미생물 군집 분석 및 비교)

  • Jeong, Ho Jin;Ha, Gwangsu;Shin, Su-Jin;Jeong, Su-Ji;Ryu, Myeong Seon;Yang, Hee-Jong;Jeong, Do-Youn
    • Journal of Life Science
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    • v.31 no.12
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    • pp.1079-1087
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    • 2021
  • To analyze gut microbiota of livestock in Korea and compare taxonomic differences, we conducted 16S rRNA metagenomic analysis through next-generation sequencing. Fecal samples from broiler chickens, pigs, and cattle were collected from domestic feedlots randomly. α-diversity results showed that significant differences in estimated species richness estimates (Chao1 and ACE, Abundance-based coverage estimators) and species richness index (OUTs, Operational taxonomic units) were identified among the three groups. However, NPShannon, Shannon, and Simpson indices revealed that abundance and evenness of the species were statistically significant only for poultry (broiler chickens) and mammals (pigs and cattle). Firmicutes was the most predominant phylum in the three groups of fecal samples. Linear discriminant (LDA) effect size (LEfSe) analysis was conducted to reveal the ranking order of abundant taxa in each of the fecal samples. A size-effect over 2.0 on the logarithmic LDA score was used as a discriminative functional biomarker. As shown by the fecal analysis at the genus level, broiler chickens were characterized by the presence of Weissella and Lactobacillus, as well as pigs were characterized by the presence of provetella and cattele were characterized by the presence of Acinetobacter. A permutational multivariate analysis of variance (PERMANOVA) showed that differences of microbial clusters among three groups were significant at the confidence level. (p=0.001). This study provides basic data that could be useful in future research on microorganisms associated with performance growth, as well as in studies on the livestock gut microbiome to increase productivity in the domestic livestock industry.

CHILDHOOD TRAUMA:RESILIENCE AND RISK FACTORS ON DEVELOPMENTAL TRAJECTORY (소아기 외상 : 발달경로에 따른 보호 및 위험인자)

  • Kim, Young-Shin
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.13 no.1
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    • pp.15-23
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    • 2002
  • Knowledge regarding the resilience factors and risk factors of the childhood trauma on the developental trajectory is in its infancy due to the lack of prospective follow-up studies in the childhood trauma and limited understanding of the complex reciprocal interactions between childhood trauma, develop-ent and various aspects of children's environment. These difficulties in the conceptual framework and research methods in the childhood trauma are partly reflected in the inconsistencies, even controversies, of the results in the childhood trauma researches. Despite these difficulties, common aspects of the risk factors and resilience of the childhood trauma on the development can be identified from the previous studies. The resilience to the negative outcome on the development by childhood trauma includes:sex female before puberty, male after puberty or infancy), high socioeconomic status, no organic problem, easy temperament, no previous experience with early loss or separation, younger age at the trauma, better problem solving capacity, high self-esteem, internal locus of control, high coping skills, ability to identify interpersonal relationships, ability to play, sense of humor, having capable parents, having a warm relaionship with at least one of the parents, high education and participating in the organized religious activities. These commonalities of the results suggest that risk and resilient factors of the childhood trauma are interdependent, each factor has multiplicity in the impacts on the children's development according to the developmental stage of the child, family and children's other environment, trauma and stressor have diverse effects according to their intensity and risk and resilience factors could have synergistic or antagonistic effects to each other. To develop comprehensive understanding on the relationship between childhood trauma and developmental psychopathology, risk and resilience factors and to develop effective and efficient prevention and intervention, research on the effect of the stress on the neurodevelopment, on the individual differences of the response to the trauma including genetic factors and constitution, and on the brain plasticity should be accompanied in the future.

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Plasminogen Activator Inhibitor Type 1 Gene Polymorphism in Patients with Minimal Change Nephrotic Syndrome (소아 신증후군 환자에서 Plasminogen Activator Inhibitor Type 1 유전자 다형성)

  • Kim Young-Min;Hong Hyun-Kee;Kim Sung-Do;Cho Byoung-Soo
    • Childhood Kidney Diseases
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    • v.8 no.1
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    • pp.26-32
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    • 2004
  • Purpose : Hypercoagulability is present in patients with nephrotic syndrome. Plasminogen activator inhibitor type 1(PAI-1) is a major inhibitor of plasminogen activators. PAI-1 inactivates both tissue plasminogen activator(tPA) and urokinase plasminogen activator(uPA) by rapid formation of inactive 1:1 stoichiometric complexes. Recently some studies showed that the enhanced PAI-1 expression may be involved in the intraglomerular fibrinogen/fibrinrelated antigen deposition seen in nephrotic syndrome. Methods : PAI-1 gene promoter -844(G/A) polymorphism was evaluated in 146 children with minimal change nephrotic syndrome(MCNS) and 230 control subjects. The patients with MCNS were subdivided into 85 infrequent-relapser(IR) group and 61 frequent relapser(FR) group. PCR of PAI-1 gene promoter region including -844(G/A) and RFLP using the restriction enzyme Xhol were performed for each DNA samples extracted from the groups. Results : The distribution of PAI-1 genotype in the control group was G/G 81(32.5%), A/A 42(16.9%), and G/A 126(50.6%). The distribution of PAI-1 genotypes in the IR group of MCNS was G/G 29(34.1%), A/A 15(17.7%), and G/A 41(48.2%). The distribution of PAI-1 genotype in the FR group of MCNS was G/G 17(27.9%), A/A 18(29.5%), and G/A 26(42.6%). There was a significantly increased frequency of A/A genotype(P=0.0251) in the FR group of MCNS. Conclusion : Our results indicate that the PAI-1 gene promoter A/A genotype may be associated with the FR in MCNS.

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Polymorphisms of GSTM1 and CYP1A1, and Susceptibility to Primary Lung Cancer in Korean Males (한국인 남성에서 GSTM1과 CYP1A1 유전자 다형성과 원발성폐암의 유전적 감수성)

  • Bae, Nack-Cheon;Lee, Su-Yeon;Chae, Po-Hee;Kang, Kyung-Hee;Kim, Kyung-Rock;Cha, Seung-Ick;Chae, Sang-Chul;Kim, Chang-Ho;Jung, Tae-Hoon;Park, Jae-Yong
    • Tuberculosis and Respiratory Diseases
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    • v.50 no.5
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    • pp.568-578
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    • 2001
  • Background : Lung cancer is frequently cited as an example of a disease caused solely by exposure to environmental carcinogens. However, there is a growing realization that the genetic constitution is also important in determining individual's susceptibility to lung cancer. This genetic susceptibility may result from functional polymorphims of the genes involved in carcinogen metabolism. In this study, the association between GSTM1 and CYP1A1 polymorphisms and the lung cancer risk in Korean males was investigated. Materials and Method : The study population consisted of 153 male lung cancer patients and 143 healthy male controls. The GSTM1 and CYP1A1 genotypes were determined by multiplex PCR and PCR-RFLP analysis. Result : There were no significant differences in the frequency of the GSTM1 null genotype between the cases and the controls. When the cases were categorized by their histologic type, the frequency of the GSTM1 null genotype in the small cell carcinoma group was higher than those of the controls(67.2% vs 55.9%), but the difference was not statistically significant(OR=1.772 ; 95% CI=0.723-4.340). The distribution of the CYP1A1 MspI genotypes among the cases were similar to those among the controls. When the cases were grouped by their histologic type, the ml/m1, ml/m2, m2/m2 genotypes frequencies among the small cell carcinomas(23.0%, 38.5%, and 38.5%, respectively) were significantly different from those of the controls(36.4%, 46.2%, and 7.4%, respectively, p<0.05). When the m1/m1 genotype was used as a reference, the ml/m2 and m2/m2 genotypes were associated with an increased risk for small cell lung cancer(ml/m2 genotype : OR=1.337, 95% CI=0.453-3.947 ; m2/m2 genotype : OR=3.374, 95% CI=1.092-10.421). Conclusion : These results suggest that the GSTM1 and CYP1A1 genotypes may be a genetic determinant of the risk for lung cancer, particlulary small cell carcinoma. Further investigation is needed to confirm these results.

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Differential Activities of FOXL2 and Its Mutants on SF-1-Induced CYP19 Transcriptional Activation (SF-1을 매개한 CYP19의 전사활성에 미치는 FOXL2 야생형과 돌연변이형의 차별적 영향)

  • Park, Mi-Ra;Kim, Ah-Young;Na, Soon-Young;Kim, Hong-Man;Lee, Kang-Seok;Bae, Jee-Hyeon;Ko, Jeong-Jae
    • Development and Reproduction
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    • v.14 no.2
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    • pp.91-97
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    • 2010
  • FOXL2 is a winged-helix/forkhead (FH) domain transcription factor, and mutations in FOXL2 gene are responsible for blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). BPES is an autosomal dominant genetic disease. BPES type I patients exhibit both premature ovarian failure (POF) and eyelid malformation, while only the eyelid defect is observed in BPES type II. FOXL2-null ovaries showed a blockage of granulosa cell differentiation, suggesting that FOXL2 plays an essential role for proper ovarian folliculogenesis. Previously, we screened for FOXL2-interacting proteins and identified steroidogenic factor-1 (SF-1) which is known to be required for gonad development and transactivates steroidogenic enzymes including CYP19. In the present study, we demonstrated that FOXL2 transactivates CYP19 and stimulated the transcriptional activation of CYP19 induced by SF-1. In contrast, FOXL2 mutants found in BPES type I and II exhibited compromised abilities to enhance CYP19 induction mediated by SF-1. Thus, this study provides a functional difference between wild-type FOXL2 and its mutants which may aid to understand pathophysiology of BPES elicited by FOXL2 mutations.