• Title/Summary/Keyword: phenotype test

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DNA microarray analysis of gene expression of MC3T3-E1 osteoblast cell cultured on anodized- or machined titanium surface

  • Park, Ju-Mi;Jeon, Hye-Ran;Pang, Eun-Kyoung;Kim, Myung-Rae;Kang, Na-Ra
    • Journal of Periodontal and Implant Science
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    • v.38 no.sup2
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    • pp.299-308
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    • 2008
  • Purpose: The aim of this study was to evaluate adhesion and gene expression of the MC3T3-E1 cells cultured on machined titanium surface (MS) and anodized titanium surface (AS) using MTT test, Scanning electron micrograph and cDNA microarray. Materials and Methods: The MTT test assay was used for examining the proliferation of MC3T3-E1 cells, osteoblast like cells from Rat calvaria, on MS and AS for 24 hours and 48 hours. Cell cultures were incubated for 24 hours to evaluate the influence of the substrate geometry on both surfaces using a Scanning Electron Micrograph (SEM). The cDNA microarray Agilent Rat 22K chip was used to monitor expressions of genes. Results: After 24 hours of adhesion, the cell density on AS was higher than MS (p < 0.05). After 48 hours the cell density on both titanium surfaces were similar (p > 0.05). AS had the irregular, rough and porous surface texture. After 48 hours incubation of the MC3T3-E1 cells, connective tissue growth factor (CTGF) was up-regulated on AS than MS (more than 2 fold) and the insulin-like growth factor 1 receptor was down-regulated (more than 2 fold) on AS than MS. Conclusion: Microarray assay at 48 hours after culturing the cells on both surfaces revealed that osteoinductive molecules appeared more prominent on AS, whereas the adhesion molecules on the biomaterial were higher on MS than AS, which will affect the phenotype of the plated cells depending on the surface morphology.

Predictive Model of Optimal Continuous Positive Airway Pressure for Obstructive Sleep Apnea Patients with Obesity by Using Machine Learning (비만 폐쇄수면무호흡 환자에서 기계학습을 통한 적정양압 예측모형)

  • Kim, Seung Soo;Yang, Kwang Ik
    • Journal of Sleep Medicine
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    • v.15 no.2
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    • pp.48-54
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    • 2018
  • Objectives: The aim of this study was to develop a predicting model for the optimal continuous positive airway pressure (CPAP) for obstructive sleep apnea (OSA) patient with obesity by using a machine learning. Methods: We retrospectively investigated the medical records of 162 OSA patients who had obesity [body mass index (BMI) ≥ 25] and undertaken successful CPAP titration study. We divided the data to a training set (90%) and a test set (10%), randomly. We made a random forest model and a least absolute shrinkage and selection operator (lasso) regression model to predict the optimal pressure by using the training set, and then applied our models and previous reported equations to the test set. To compare the fitness of each models, we used a correlation coefficient (CC) and a mean absolute error (MAE). Results: The random forest model showed the best performance {CC 0.78 [95% confidence interval (CI) 0.43-0.93], MAE 1.20}. The lasso regression model also showed the improved result [CC 0.78 (95% CI 0.42-0.93), MAE 1.26] compared to the Hoffstein equation [CC 0.68 (95% CI 0.23-0.89), MAE 1.34] and the Choi's equation [CC 0.72 (95% CI 0.30-0.90), MAE 1.40]. Conclusions: Our random forest model and lasso model ($26.213+0.084{\times}BMI+0.004{\times}$apnea-hypopnea index+$0.004{\times}oxygen$ desaturation index-$0.215{\times}mean$ oxygen saturation) showed the improved performance compared to the previous reported equations. The further study for other subgroup or phenotype of OSA is required.

Age Prediction based on the Transcriptome of Human Dermal Fibroblasts through Interval Selection (피부섬유모세포 전사체 정보를 활용한 구간 선택 기반 연령 예측)

  • Seok, Ho-Sik
    • Journal of IKEEE
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    • v.26 no.3
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    • pp.494-499
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    • 2022
  • It is reported that genome-wide RNA-seq profiles has potential as biomarkers of aging. A number of researches achieved promising prediction performance based on gene expression profiles. We develop an age prediction method based on the transcriptome of human dermal fibroblasts by selecting a proper age interval. The proposed method executes multiple rules in a sequential manner and a rule utilizes a classifier and a regression model to determine whether a given test sample belongs to the target age interval of the rule. If a given test sample satisfies the selection condition of a rule, age is predicted from the associated target age interval. Our method predicts age to a mean absolute error of 5.7 years. Our method outperforms prior best performance of mean absolute error of 7.7 years achieved by an ensemble based prediction method. We observe that it is possible to predict age based on genome-wide RNA-seq profiles but prediction performance is not stable but varying with age.

Mutation spectrum of NF1 gene in Korean unrelated patients with neurofibromatosis 1: Six novel pathogenic variants

  • Sung Hee Han;Eun Joo Kang;Mina Yang;Suekyeung Kim;Sang Gon Lee;Eun Hee Lee
    • Journal of Genetic Medicine
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    • v.21 no.1
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    • pp.22-30
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    • 2024
  • Purpose: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Mutation detection is complex owing to the large size of the NF1 gene, the presence of a high number of partial pseudogenes, and the great variety of mutations. We aimed to study the mutation spectrum of NF1 gene in Korean patients with NF1. Materials and Methods: We have analyzed total 69 unrelated patients who were clinically diagnosed with NF1. PCR and sequencing of the NF1 gene was performed in all unrelated index patients. Additionally, multiplex ligation-dependent probe amplification (MLPA) test of the NF1 and SPRED1 gene analysis (sequencing and MLPA test) were performed in patients with negative results from NF1 gene sequencing analysis. Results: Fifty-five different variants were identified in 60 individuals, including six novel variants. The mutations included 36 single base substitutions (15 missense and 21 nonsense), eight splicing mutations, 13 small insertion or deletions, and three gross deletions. Most pathogenic variants were unique. The mutations were evenly distributed across exon one through 58 of NF1, and no mutational hot spots were found. When fulfilling the National Institutes of Health criterion for the clinical diagnosis of NF1, the detection rate was 84.1%. Cafe-au-lait macules were observed in all patients with NF1 mutations. There is no clear relationship between specific mutations and clinical features. Conclusion: This study revealed a wide spectrum and genetic basis of patients with NF1 in Korea. Our results aim to contribute genetic management and counseling.

A Study of Changes in Body Shape, Temperament, Symptoms and Sasang Constitutional Values Using the Korea Sasang Constitutional Diagnostic Questionnaire (KS-15) : 5 Year Follow Up (사상체질 진단설문지(KS-15)를 이용한 외형, 성정, 병증의 추적관찰 및 체질값 변화 연구 : 5년 추적)

  • Kyoungsik Jeong;Bok-Nam Seo;Yunyoung Kim;Eunsu Jang
    • Journal of Sasang Constitutional Medicine
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    • v.36 no.2
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    • pp.1-11
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    • 2024
  • Objectives The purpose of this study was to compare between baseline and follow up data after 5 years about the change of Sasang constitutional value. Methods Cohort data of educational personnel in D University was used. Korean Sasang Constitutional Diagnostic Questionnaire was used to compare Sasang value including body shape, temperament, and pathological symptoms in baseline with those of follow up. Paired t test, chi-square test, correlation analysis and cohen's kappa coefficient was used. Results Total 150 subjects participated in this analysis. Taeeumin, Soeumin and Soyangin was 71, 46 and 33 respectively. Height decreased in follow-up, and weight increased, accordingly body mass index increased(p<.05). The score of nocturia was significantly increased, and the temperature of drinking water was significantly decreased. The consistency rate of the Sasang constitutional values in KS-15 between baseline and follow up was 76%, and the kappa value was 0.607. Compared to the expert's diagnosis, the agreement rate was 66.7% in baseline and 69.3% in follow up. Conclusion As times goes by, Sasang Constitutional phenotype, such as body mass index, nocturia, and temperature of drinking water, and accordingly, the predicted value of Sasang constitution may be changed. Those who use Sasang constitutional type and therapy in clinics should consider these factors.

The Effects of Monoamine Oxidase A CA Repeat Polymorphism on Behavioral Trait and Clinical Characteristics in Korean Male Alcoholics (단가아민 산화제 A CA 반복 유전자 다형성이 한국 알코올의존 남자환자의 행동특성과 임상양상에 미치는 영향)

  • Lee, Jung-Sik;Yang, Byung-Hwan;Lee, Kyung-Mee;Kim, Hong-Kwan;Kim, Yong-In;Chai, Young-Gyu
    • Korean Journal of Biological Psychiatry
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    • v.7 no.1
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    • pp.64-73
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    • 2000
  • There are several candidate genes in genetic study of alcoholism. Among them, allelic associations have been reported between MAOA CA repeat polymorphism and alcohol dependence, recently. And also, several studies have been investigated genotype-phenotype relationships between MAOA CA repeat polymorphism and clinical manifestations. The authors tried to identify differences in allelic frequency of MAOA CA repeat polymorphism between alcohol dependence and controls, and in behavioral trait and clinical characteristics according to MAOA CA repeat polymorphism. We also tried to investigate genotype-phenotype relationships between MAOA CA repeat polymorphism and behavioral trait such as aggression. We examined 49 male patients with alcohol dependence(DSM-IV) who had been admitted in Yong-In Mental Hospital from June 1st 1998 to October 31th 1998. We performed semistructured interview for demographic and clinical characteristics. Self-report questionnaire for BDHI(Buss-Durkey Hostility Inventory) was given to all subject at least 4weeks later after admission. Using polymerase chain reaction and polyacrylamide gel electrophoresis, MAOA CA repeat polymorphism were observed in 52 male controls and 49 male patients with alcohol dependence. We devided alcoholic patients into two groups according to allelic length of MAOA CA repeat polymorphism ; alcoholics with short alleles(${\leq}$119bp, N=20) and alcoholics with long alleles(${\geq}$123bp, N=29). T-test, ${\chi}^2$-test and Fisher exact probability test were used for statistical analysis. There were no significant differences in frequency of each allele and short and long alleles of MAOA CA repeat polymorphism between alcoholics and controls. But there were significant differences in clinical symptoms and behavioral trait between alcoholics with short and long alleles. In clinical symptoms, alcoholics with long alleles used alcohol more frequently during one month before admission, had much more maximum amount of beer drinking and reported withdrawal seizure more frequently than with short alleles. In contrary, alcoholics with short alleles expressed depressed mood and guilty feeling more frequently and wanted complete abstinence as a treatment goal more frequently than with long alleles. In behavioral trait, alcoholics with long alleles had higher total aggression score and showed much more self-assertive attitude(subscale of expression of aggression) than with short alleles. Allelic length of MAOA CA repeat polymorphism was correlated with self-assertive attitude and accounted for 9% of the variance of self-assertive attitude. And also, predictable variables of allelic length of MAOA CA repeat polymorphism were drinking frequency and self-assertive attitude. Our findings suggest that MAOA CA repeat polymorphism may provide some behavior modifying role especially in self-assertive attitude and indirect symptom modifying role in Korean male alcoholics.

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Outbreaks of Imipenem-Resistant Acinetobacter baumannii Producing Carbapenemases in Korea

  • Jeong Seok-Hoon;Bae Il-Kwon;Park Kwang-Ok;An Young-Jun;Sohn Seung-Ghyu;Jang Seon-Ju;Sung Kwang-Hoon;Yang Ki-Suk;Lee Kyung-Won;Young Dong-Eun;Lee Sang-Hee
    • Journal of Microbiology
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    • v.44 no.4
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    • pp.423-431
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    • 2006
  • Among 53 Acinetobacter baumannii isolates collected in 2004, nine imipenem-resistant isolates were obtained from clinical specimens taken from patients hospitalized in Busan, Korea. Nine carbapenemase-producing isolates were further investigated in order to determine the mechanisms underlying resistance. These isolates were then analyzed via antibiotic susceptibility testing, microbiological tests of carbapenemase activity, pI determination, transconjugation test, enterobacterial repetitive consensus (ERIC)-PCR, and DNA sequencing. One outbreak involved seven cases of infection by A. baumannii producing OXA-23 ${\beta}-lactamase$, and was found to have been caused by a single ERIC-PCR clone. During the study period, the other outbreak involved two cases of infection by A. baumannii producing IMP-1 ${\beta}-lactamase$. The two clones, one from each of the outbreaks, were characterized via a modified cloverleaf synergy test and an EDTA-disk synergy test. The isoelectric focusing of the crude bacterial extracts detected nitrocefin-positive bands with pI values of 6.65 (OXA-23) and 9.0 (IMP-1). The PCR amplification and characterization of the amplicons via direct sequencing showed that the clonal isolates harbored $bla_{IMP-1}$ or $bla_{oxA-23}$ determinants. The two clones were characterized by a multidrug resistance phenotype that remained unaltered throughout the outbreak. This resistance encompassed penicillins, extended-spectrum cephalosporins, carbapenems, monobactams, and aminoglycosides. These results appear to show that the imipenem resistance observed among nine Korean A. baumannii isolates could be attributed to the spread of an IMP-lor OXA-23-producing clone. Our microbiological test of carbapenemase activity is a simple method for the screening of clinical isolates producing class D carbapenemase and/or class B $metallo-{\beta}-lactamase$, in order both to determine their clinical impact and to prevent further spread.

First Detection of $bla_{IMP-1}$ in Clinical Isolate Multiresistant Acinetobacter baumannii from Korea

  • Jeong Seok-Hoon;Bae Il-Kwon;Sohn Seung-Ghyu;Park Kwang-Ok;An Young-Jun;Sung Kwang-Hoon;Jang Seon-Ju;Heo Myong-Jin;Yang Ki-Suk;Lee Sang-Hee
    • Journal of Microbiology and Biotechnology
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    • v.16 no.9
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    • pp.1377-1383
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    • 2006
  • Among 46 Acinetobacter baumannii isolates collected in 2004, two imipenem-resistant isolates were obtained from clinical specimens taken from patients hospitalized in Busan, Republic of Korea. Two carbapenemase-producing isolates were further investigated to determine the mechanism of resistance. These isolates were analyzed by antibiotic susceptibility testing, microbiological tests of carbapenemase activity, determination of pI, transconjugation test, enterobacterial repetitive consensus (ERIC)-PCR, and DNA sequencing. Two cases of infection by A. baumannii producing the IMP-1 ${\beta}$-lactamase were detected. The isolates were characterized by a modified cloverleaf synergy test and EDTA-disk synergy test. Isoelectric focusing of crude bacterial extracts revealed nitrocefin-positive bands with a pI value of 9.0. PCR amplification and characterization of the amplicons by direct sequencing indicated that the isolates carried a $bla_{IMP-l}$ determinant. The isolates were characterized by a multidrug resistance phenotype, including penicillins, extended-spectrum cephalosporins, carbapenems, and aminoglycosides. These results indicate that the observed imipenem resistance of two Korean A. baumannii isolates was due to the spread of an IMP-1-producing clone. Our microbiological test of carbapenemase activity is simple to screen class B metallo-${\beta}$-lactamase-producing clinical isolates to determine their clinical impact and to prevent further spread. This study shows that the $bla_{IMP-l}$ resistance determinant, which is emerging in Korea, may become an emerging therapeutic problem, since clinicians are advised not to use extended-spectrum cephalosporins, imipenem, and aminoglycosides. This observation emphasizes the importance of having effective control measures in Asian hospitals, such as early detection of colonized patients, isolation procedures, and a judicious use of antibiotics.

Development of an Integrated General Model (IGM) System for Comparison of Genetic Gains from Different Bull Selection Strategies for Korean Brown Cattle (Hanwoo)

  • Lee, Jeong-Soo;Kim, Hee-Bal;Kim, Si-Dong
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.11
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    • pp.1483-1503
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    • 2011
  • To advance the effectiveness of the current Hanwoo improvement system, we developed a general simulation that compared a series of breeding schemes under realistic user circumstances. We call this system the Integrated General Model (IGM) and it allows users to control the breeding schemes and selection methods by manipulating the input parameters. The Current Hanwoo Performance and Progeny Test (CHPPT) scheme was simulated with a Modified Hanwoo Performance and Progeny Test (MHPPT) scheme using a Hanwoo Breeding Farm cow population of the Livestock Improvement Main Center (LOMC) of the National Agricultural Cooperatives Federation (NACF). To compare the two schemes, a new method, the Simple Hanwoo Performance Test (SHPT), which uses ultrasound technology for measuring the carcass traits of live animals, was developed. These three models, including the CHPPT, incorporated three types of selection criteria: phenotype (PH), true breeding value (TBV), and estimated breeding value (EBV). The simulation was scheduled to mimic an actual Hanwoo breeding program; thus, the simulation was run to include the years 1983-2020 for each breeding method and was replicated 10 times. The parameters for simulation were derived from the literature. Approximately 642,000 animals were simulated per replication for the CHPPT scheme; 129,000 animals were simulated for the MHPPT scheme and 112,000 animals for the SHPT scheme. Throughout the 38-year simulation, all estimated parameters of each simulated population, regardless of population size, showed results similar to the input parameters. The deviations between input and output values for the parameters in the large populations were statistically acceptable. In this study, we integrated three simulated models, including the CHPPT, in an attempt to achieve the greatest genetic gains within major economic traits including body weight at 12 months of age (BW12), body weight at 24 months of age (BW24), average daily gain from 6 to 12 months (ADG), carcass weight (CWT), carcass longissimus muscle area (CLMA), carcass marbling score (CMS), ultrasound scanned longissimus muscle area (ULMA), and ultrasound scanned marbling score (UMS).

Association of polymorphisms in bone morphogenetic protein receptor-1B gene exon-9 with litter size in Dorset, Mongolian, and Small Tail Han ewes

  • Jia, Jianlei;Chen, Qian;Gui, Linsheng;Jin, Jipeng;Li, Yongyuan;Ru, Qiaohong;Hou, Shengzhen
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.7
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    • pp.949-955
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    • 2019
  • Objective: The present study was to investigate the association of polymorphisms in exon-9 of the bone morphogenetic protein receptor-1B (BMPR-1B) gene (C864T) with litter size in 240 Dorset, 232 Mongolian, and 124 Small Tail Han ewes. Methods: Blood samples were collected from 596 ewes and genomic DNA was extracted using the phenol: chloroform extraction method. The 304-bp amplified polymerase chain reaction product was analyzed for polymorphism by single-strand conformation polymorphism method. The genotypic frequency and allele frequency of BMPR-1B gene exon-9 were computed after sequence alignment. The ${\chi}^2$ independence test was used to analyze the association of genotypic frequency and litter size traits with in each ewe breed, where the phenotype was directly treated as category. Results: The results indicated two different banding patterns AA and AB for this fragment, with the most frequent genotype and allele of AA and A. Calculated Chi-square test for BMPR-1B gene exon-9 was found to be more than that of p value at the 5% level of significance, indicating that the population under study was in Hardy-Weinberg equilibrium for all ewes. The ${\chi}^2$ independence test analyses indicated litter size differences between genotypes was not the same for each breed. The 304-bp nucleotide sequence was subjected to BLAST analysis, and the C864T mutation significantly affected litter size in singletons, twins and multiples. The heterozygosity in exon-9 of BMPR-1B gene could increase litter size for all the studied ewes. Conclusion: Consequently, it appears that the polymorphism BMPR-1B gene exon-9 detected in this study may have potential use in marker assisted selection for litter size in Dorset, Mongolian, and Small Tail Han ewes.