• Title/Summary/Keyword: GENETIC RELATIONSHIP

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Genetic Analysis of Some Polymorphic Isozymes in Pinus densiflora (I) -Inheritance of Glutamate-Oxalate Transaminase and Leucine Aminopeptidase, and Linkage Relationship among Allozyme Loci- (소나무의 몇가지 다형적(多形的) 동위효소(同位酵素)의 유전분석(遺傳分析)(I) -Glutamate-Oxalate Transaminase 와 Leucine Aminopeptidase의 유전(遺傳)과 동위효소(同位酵素) 유전자좌(遺傳子座) 간(間)의 연관관계(連關關係)-)

  • Kim, Zin Suh;Hong, Yong Pyo
    • Journal of Korean Society of Forest Science
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    • v.58 no.1
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    • pp.1-7
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    • 1982
  • Megagametophyte and embryo tissue of Pinus densiflora were subjected to study the inheritance of glutamate-oxalate transaminase(GOT) and leucine aminopeptidase(LAP), and linkage relationship among isozyme loci coding both enzymes by starch gel zone-electrophoresis. Four zones of activity were observed for GOT. No variation was found in the fastest migrating zone (GOT-A). Electrophoretic phenotypes of the other two zones (GOT-B and GOT-C) showed 1:1 segregation ration, suggesting that each zone is controlled by a single locus. Foru and three alleles were identified at both loci respectively. The isozyme pattern of the fourth zone(GOT-D), migrated cathodally, coincided precisely with that of GOT-C. Whether the two zones are controlled by the same locus or by two tightly linked loci remained unknown. In all three variant GOT zones, heterozygoes embryos produced triple band patterns, indicating that GOT isozyme in Pinus densiflora is a dimer. Two zones of activity stained for LAP were found. The segregation of the two zones (LAP-A and LAP-B) suggested that tow loci control each of both isozymes. Two and three alleles were identified at both loci. GOT-B and LAP-B were found to be tightly linked, showing an average recombination frequency of 12.5 percent. Slight deviation from independent assortment was observed between GOT-B and GOT-C, with recombination frequency of 41 percent.

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p53 and c-erbB2 as the Immunohistochemical Markers in Patients with Squamous Cell Carcinoma of the Lung (편평상피 폐암 및 주위 정상조직에서 p53 및 c-erbB2 발현의 의의)

  • Song, Chang-Seuk;Ok, Chul-Ho;Jung, Yong-Seuk;Jang, Tae-Won;Jung, Maan-Hong;Lee, Jae-Seong;Jung, Hae-Jeen;Hur, Bahng;Hur, Man-Ha
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.4
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    • pp.523-532
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    • 1999
  • Background: With the development of the molecular biological methods, studies of the early diagnosis of lung cancer and the detection in the preneoplastic state by using genetic probes in the high risk groups are widely investigated. In lung cancer, squamous cell carcinoma is considered to progress from the normal bronchial mucosa to the preneoplastic state, and finally to the invasive carcinoma. In this study, we investigated the expression of p53 and c-erbB2 in the normal bronchi and the cancer tissues in patients with squamous cell lung cancer to evaluate the possibility of using these immunohistochemical markers as the diagnostic and prognostic parameters of patients with squamous cell lung cancer. Method: The normal and cancerous bronchial tissues of 25 patients with squamous cell carcinoma of the lung, surgically resected from May 1995 to November 1996, were immunohistochemically stained with the monoclonal antibodies to p53(DAKO-p53) and c-erbB2(phamingen 15821A) respectively. We compared the expression status of these markers between the normal bronchial mucosa and the tumor tissue, and also investigated the relationship between the expression status of these markers in tumor tissues and the pathological stage, and the survival time. Results: The pathological stage was as follows; stage I, II were found in 5 patients respectively, stage IIIA was in 8 patients, stage IIIB was in 4 patients, and stage IV was in 3 patients. The expression rate of p53 in the squamous cell lung cancer was 48%, and it was not expressed in the normal bronchial mucosa. The expression status was increased as the pathological stage advanced(p=0.0091 by test of trend). But there were no relationship between the expression of p53 and the median survival time. C-erbB2 did not yield a significantly meaningful result. Conclusion: p53 was not found in the normal bronchial mucosa, but it was expressed in 48% of the tumor tissue. And the expression rate increased as the pathological stage advanced. So it would be helpful to apply the immunochistochemical stain with p53 in the bronchial biopsy specimen in the early diagnosis trial or staging of squamous cell lung cancer.

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The Relationship between the Therapeutic Response to Antipsychotic Drugs and the Dopamine D2, D3, and D4 Receptor Gene Polymorphisms in Korean Schizophrenic Patients (한국인 정신분열병 환자에서 항정신병 약물의 치료 반응과 도파민 D2, D3 및 D4 수용체 유전자 다형성)

  • Kim, Hee-Cheol;Jung, Sung-Won;Kim, Dae-Kwang;Jung, Chul-Ho
    • Korean Journal of Biological Psychiatry
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    • v.14 no.3
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    • pp.167-176
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    • 2007
  • Objectives:A considerable number of pharmacogenetic studies have been performed in recent years to define the association of antipsychotic drug response with dopamine receptor polymorphisms. The purpose of this study was to investigate the relationship between the therapeutic response to antipsychotic drugs and the polymorphisms of the dopamine D2, D3, and D4 receptor genes(DRD2, DRD3 and DRD4, respectively). Methods:We conducted retrospective chart review of 200 consecutively hospitalized patients with the diagnosis of schizophrenia(DSM-IV) who were treated with various antipsychotics(94% atypical antipsychotics) at Bugok National Hospital, Korea. The patients were divided into two groups, responders and non-responders, by responsiveness to antipsychotic drugs according to a four-point scale used in previous studies; responders included moderate to marked responded patients and non-responders included none to minimal responded patients. We analyzed the Ser311Cys polymorphism in the DRD2, the Ser9Gly polymorphism in the DRD3, and the exon III 48 bp repeat polymorphism in the DRD4. Results:Among the total patients of 200, 141(70.5%) were categorized as responders. There were no significant differences in the frequencies of the DRD2, DRD3, and DRD4 alleles and genotypes between responders and non-responders. Conclusion:These results suggest that the Ser311Cys polymorphism in the DRD2, the Ser9Gly polym- orphism in the DRD3, and the exon III 48bp repeat polymorphism in the DRD4 are not associated with the therapeutic response to antipsychotic drugs in Korean schizophrenic patients. A larger prospective study is needed to elucidate the association between antipsychotic response and dopamine receptor gene polymorphism.

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Genetic Environments of the High-purity Limestone in the Upper Zone of the Daegi Formation at the Jeongseon-Samcheok Area (정선-삼척 일대 대기층 상부 고품위 석회석의 생성환경)

  • Kim, Chang Seong;Choi, Seon-Gyu;Kim, Gyu-Bo;Kang, Jeonggeuk;Kim, Kyeong Bae;Kim, Hagsoo;Lee, Jeongsang;Ryu, In-Chang
    • Economic and Environmental Geology
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    • v.50 no.4
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    • pp.287-302
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    • 2017
  • The carbonate rocks of the Daegi Formation are composed of the limestone at the upper and lower zones, and the dolomite at the middle zone, in which the upper zone has higher CaO content than others. The colors of carbonate rock in the Daegi Formation can be divided into five types; white, light brown, light gray, gray, and dark gray. The white to light gray colored rocks correspond to the high purity limestone with 53.15 ~ 55.64 wt. % CaO, and the light brown colored rocks contain 20.71 ~ 21.67 wt. % MgO. The bleaching of carbonate rocks are not related to CaO composition of the rocks, as light gray rocks tend to be higher in CaO content than those of the white rocks at the lower zone. The pelitic components are also occasionally increased in white limestone than light grey one. $Al_2O_3$ is one of the most difficult content to remove during hydrothermal processes, so the interpretation that the limestone is purified together with hydrothemral bleaching, has little merit. The wide range (over 16 ‰) of ${\delta}^{18}O_{SMOW}$, smaller variation (within 2 ‰) of ${\delta}^{13}C_{PDB}$ are apparent in both the upper and lower zones, which indicate the Daegi Formation had been affected overall by hydrothermal fluids. The K-Ar isotopic age of hydrothermal alteration in the GMI limestone mine is $85.1{\pm}1.7Ma$. Gradual change from grey through light grey to white limestone is accompaned by lower oxygen stable isotope values, which is major evidence that the hydrothermal effect is the main process of the bleaching. Although the Daegi Formation has suffered from hydrothermal activity and increase in whiteness, there is no clear evidence demonstrating the relationship between bleaching and high purity of limestone. The purification of limestone has nothing to do with the hydrothermal activity in this area. Instead, it should be considered that the change of sedimentary environment related to see-level fluctuation which can prevent deposition of pelitic components especially $Al_2O_3$ contrbuted to the formation of the high purity limestone in the upper zone of the Daegi Formation. Considering the evidences such as increase in CaO content of limestone by depth, gradual change from calcite to dolomite at the lower zones, and occurring the high purity limestone at the upper zone, the interpretation of sequence stratigraphic aspect to the formation of the high purity Daegi limestone appears to be more suitable than that of hydrothermal alteration origin.

A Study of Microsatellite Instability in Primary Small Cell Lung Cancers by Microsatellite Analysis (원발성 소세포폐암에서 Microsatellite 분석을 이용한 Microsatellite 불안정화에 대한 연구)

  • Cho, Eun-Song;Chang, Joon;Park, Jae-Min;Shin, Dong-Hwan;Kim, Se-Hoon;Kim, Young-Sam;Chang, Yoon-Soo;Cho, Chul-Ho;Kwak, Seung-Min;Lee, Jun-Gu;Chung, Kyung-Young;Kim, Sung-Kyu;Lee, Won-Young;Kim, Se-Kyu
    • Tuberculosis and Respiratory Diseases
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    • v.48 no.2
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    • pp.180-190
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    • 2000
  • Background: Genomic instability, which is manifested by the replication error(RER) phenotype, has been proposed for the promotion of genetic alterations necessary for carcinogenesis. Merlo et al. reported frequent microsatellite instability in primary small cell lung cancers. However, Kim et al. found that instability occurred in only 1% of the loci tested and did not resemble the replication error-positive phenotype. The significance of microsatellite instability in the tumorigenesis of small cell lung cancer as well as the relationship between microsatellite instability and its clinical prognosis was investigated in our study. Methods: Fifteen primary small cell lung cancers were chosen for this study. The DNAs extracted from paraffin-embedded tissue blocks with primary tumor and corresponding control tissue were investigated. Forty microsatellite markers on chromosome 1p, 2p, 3p, 5q, 6p, 6q, 9p, 9q, 13q, and 17p were used in the microsatellite analysis. Results: Thirteen(86.7%) of 15 tumors exhibited LOH in at least one of the tested microsatellite markers. Three of 13 tumors exhibiting LOH lost a larger area in chromosome 9p. LOH was shown in 72.7% on chromosome 2p, 40% on 3p, 50% on 5q, 46.7% on 9p, 69.2% on 13q, and 66.7% on 17p(Table 1). Nine(60%) of 15 tumors exhibited shifted bands in at least one of the tested microsatellite markers. Nine cases exhibiting shifted bands showed altered loci ranging 2.5~52.5%(mean $9.4%\pm16.19$)(Table 2). Shifted bands occurred in 5.7% (34 of 600) of the loci tested(Table 2). Nine cases with shifted bands exhibited LOH ranging between 0~83.3%, and the median survival duration of those cases was 35 weeks. Six cases without shifted bands exhibited LOH ranging between 0~83.3%, and the median survival duration of those cases was 73 weeks. There was no significant difference between median survival durations of the two groups(p=0.4712). Conclusion: Microsatellite instability as well as the inactivation of several tumor suppressor genes may play important roles in the development and progression process of tumors. However, the relationship between microsatellite instability and its clinical prognosis in primary small cell lung cancer could not be established.

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Characterization of the DGAT1 Gene in the Korean Holstein Dairy Cattle Population (한국 Holstein종 유우집단의 DGAT1 유전자의 특성분석)

  • Son, Ji-Young;Jeong, Hang-Jin;Yu, Seong-Lan;Lee, Jun-Heon;Do, Chang-Hee;Ryoo, Seung-Heui;Sang, Byung-Chan
    • 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).

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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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Clinical Manifestations and Gene Analysis of Patients with Benign Hyperphenylalaninemia (양성 고페닐알라닌혈증 환자에 대한 임상적 고찰과 유전자 분석)

  • Lee, Jeongeun;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.2
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    • pp.79-85
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    • 2016
  • Purpose: This study aimed to analyze genetic mutations, clinical manifestations, and treatment of patients with benign HPA in Korea. Methods: This case series study involved ten HPA patients who were referred to our hospital because of high phenylalanine concentration. We investigated their demographic features, clinical manifestations, and mutations of the PAH gene through direct DNA sequencing. Results: Among ten patients with benign HPA, two pairs of patients were related (father-daughter, mother-daughter relationship) cases, and all of them showed no specific clinical manifestations or notable past history. Their plasma phenylalanine levels ranged between 1.2 and 4.2 mg/dL. In the tetrahydrobiopterin (BH4) loading test, all patients were nonresponsive to BH4. In the confirmation test of PAH mutation analysis, we identified eleven different alleles out of twelve. The most common allele was R53H (c.158G> A). In addition, two novel PAH gene mutations, V423A (c.1268T>C) and V51A (c.152T>C), were identified. Although the patients did not receive any pharmacologic treatment or continuous phenylalanine restriction dietary therapy, their neurocognitive development was normal. Moreover, on serial outpatient follow-up tests, all patients maintained phenylalanine levels below 6 mg/dL. Conclusion: This study is the first in Korea to analyze benign HPA patients. All patients with benign HPA could maintain phenylalanine levels below 6 mg/dL with normal neurocognitive development, without continuous therapy. Therefore, performing mutation analysis and distinguishing benign HPA from phenylketonuria (PKU) are important to help improve life quality in patients with benign HPA by avoiding unnecessary lifelong therapy.

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Human Papillomavirus Prevalence and Distribution according to Age among Korean and Chinese Women (중국과 한국여성에서 나이에 따른 인유두종바이러스의 유병률과 분포)

  • Kim, Geehyuk;Kim, Sunghyun;Park, Sunyoung;Park, Sangjung;Lin, Han;Ren, Yubo;Li, Yingxue;Lee, In Soo;Lee, Jae Dal;Lee, Dongsup
    • Korean Journal of Clinical Laboratory Science
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    • v.47 no.4
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    • pp.259-266
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    • 2015
  • Cervical cancer is the third most common cancer among women worldwide. Cervical cancer is significantly associated with human papillomavirus (HPV) infection. The prevalence of HPV infection is influenced by geography, immune status, sexual history and genetic factors. For example, geographically, HPV prevalence varies from 1.5% to 39%. However, little is known about the relationship between HPV prevalence and age. An analysis of HPV prevalence by age will help determine when high-risk groups are exposed to HPV. Such an analysis could also demonstrate a correlation between specific HPV genotypes and age. In addition, the analysis might clarify the optimum age for using vaccines. In this study, HPV prevalence and genotype distribution among Korean and Chinese women are analyzed by age. The REBA HPV-ID$^{(R)}$ assay (YD diagnostics, Yong-in, Republic of Korea) was used for detecting HPV genotypes in uterine cervical liquid-based cytology samples from 533 women from Korea and 324 from East China (Western Shandong province. Women with severe dysplasia such as SCC (Squamous cell carcinoma) and HSIL (High-grade squamous intraepithelial lesion) groups were primarily in their 40s and 50s, whereas women with mild and moderate dysplasia (ASCUS and LSIL groups) were primarily in their 30s and 40s. Women with HPV genotype 16 and 18 infections were primarily in their 40s. The results suggest that HPV infection is associated with certain age groups in the Korean population.

Epidemiology and Clinical manifestations of Enterovirus in Pediatric Inpatient in Incheon (인천지역 소아 입원 환자의 엔테로바이러스 역학과 혈청형에 따른 임상양상 비교)

  • Cho, Byoung Wook;Kwon, Seong Eun;Kwon, Mun Ju;Hur, Myong Je;Kim, Kyung Seon;Hong, Young Jin;Kim, Soon Ki;Kwon, Young Se;Kim, Dong Hyun
    • Pediatric Infection and Vaccine
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    • v.23 no.1
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    • pp.46-53
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    • 2016
  • Purpose: Enterovirus (EV) infection in children can manifest various diseases from asymptomatic infection to nonspecific febrile illness, hand-foot-mouth disease, and aseptic meningitis. This study was aimed to investigate epidemiology and clinical significance of various genotypes of EV infections in pediatric inpatient. Methods: We collected the stool samples from the admitted pediatric patients in Inha University Hospital from March 2014 to March 2015. EV detection and genotype identification were performed by real-time RT-PCR and semi-nested RT-PCR. Phylogenetic trees were constructed by neighbor joining method. Results: A total of 400 samples were collected during study period and 112 patients (28%) were diagnosed with EV infections. The mean age of EV positive patients was 2.66 years (0.1-14) and sex ratio was 1.73:1. Genetic sequences of EVs were identified; coxsackievirus B5 (17, 15.2%), coxsackievirus A16 (13, 11.6%), enterovirus 71 (10, 8.9%), and coxsackievirus A2 (9, 8.0%). Nonspecific febrile illness (96, 86%) was the most common clinical manifestation and the duration of fever was 0-11 days (mean 3.1 days). Rash (44, 39%) and meningitis (43, 38%) were followed. Patients who were attending daycare center or had siblings accounted for 82.1%. Phylogenetic relationship tree revealed 6 distinct genogroups among 56 types of EVs. Conclusions: This study is the report of epidemiology, serotype distribution and clinical manifestations of children with EV infection in Incheon. This data will be helpful for further study about the epidemiology of EV infection in Korea.