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Whole-genome association and genome partitioning revealed variants and explained heritability for total number of teats in a Yorkshire pig population

  • Uzzaman, Md. Rasel;Park, Jong-Eun;Lee, Kyung-Tai;Cho, Eun-Seok;Choi, Bong-Hwan;Kim, Tae-Hun
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.4
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    • pp.473-479
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    • 2018
  • Objective: The study was designed to perform a genome-wide association (GWA) and partitioning of genome using Illumina's PorcineSNP60 Beadchip in order to identify variants and determine the explained heritability for the total number of teats in Yorkshire pig. Methods: After screening with the following criteria: minor allele frequency, $MAF{\leq}0.01$; Hardy-Weinberg equilibrium, $HWE{\leq}0.000001$, a pair-wise genomic relationship matrix was produced using 42,953 single nucleotide polymorphisms (SNPs). A genome-wide mixed linear model-based association analysis (MLMA) was conducted. And for estimating the explained heritability with genome- or chromosome-wide SNPs the genetic relatedness estimation through maximum likelihood approach was used in our study. Results: The MLMA analysis and false discovery rate p-values identified three significant SNPs on two different chromosomes (rs81476910 and rs81405825 on SSC8; rs81332615 on SSC13) for total number of teats. Besides, we estimated that 30% of variance could be explained by all of the common SNPs on the autosomal chromosomes for the trait. The maximum amount of heritability obtained by partitioning the genome were $0.22{\pm}0.05$, $0.16{\pm}0.05$, $0.10{\pm}0.03$ and $0.08{\pm}0.03$ on SSC7, SSC13, SSC1, and SSC8, respectively. Of them, SSC7 explained the amount of estimated heritability along with a SNP (rs80805264) identified by genome-wide association studies at the empirical p value significance level of 2.35E-05 in our study. Interestingly, rs80805264 was found in a nearby quantitative trait loci (QTL) on SSC7 for the teat number trait as identified in a recent study. Moreover, all other significant SNPs were found within and/or close to some QTLs related to ovary weight, total number of born alive and age at puberty in pigs. Conclusion: The SNPs we identified unquestionably represent some of the important QTL regions as well as genes of interest in the genome for various physiological functions responsible for reproduction in pigs.

Evaluation for detection of Cryptosporidium oocysts in diarrheal feces of calves (야외 송아지 설사변에서 작은와포자충 검출에 대한 평가)

  • Wi, Seong-Hwan;Ju, Hu-Don;Gang, Yeong-Bae
    • Parasites, Hosts and Diseases
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    • v.34 no.2
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    • pp.121-126
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    • 1996
  • For the detection of Cwptospori,mum oocysts, fecal samples were collected from 201 calves which showed diarrhea. Among the 201 samples, 29 samples (14.4%) were positive for Cwptosporinium spry. by the DMSO-modified acid-fast stain (MAFS) , 23 samples (11.4%) were positive by commercial kit (Meridian Diagnostics, Cincinnati, Ohiol and 23 by the indirect immunofluorescence antibody (IFA )assay employing the monoclonal antibody (mAb C6). When tested by both IFA and MAFS, 20 fecal samples were positive for Cwptosporinium oocysts whereas 169 fecal samples were negative. If the MAFS is considered a standard method for oocyst detection, the IFA showed 69% of sensitivity and 98% of specificity. When tested by both IFA and commercial kit, 22 fecal samples were positive for Cwptospori,mum oocysts while 177 samples were negative. One sample tested by IFA was found to be false negative, when compared with the results by commercial kit. The sensitivity of IFA was calculated as high as 96%; the specificity as 99% and the predictive value was also 99%. In the present study, IFA employing the nAb C6 revealed that 23 samples (11.4%) were positive among the 201 calves showing diarrhea. Of 23 IFA positive samples, 4 samples (5%) showed cryptosporidial oocysts more than 105 OPG Therefore. it is concluded that the calves showing cryptosporidial oocysts more than 105 OPG in the feces were highly associated with clinical cryptosporidiosis.

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Effects of Fibrinogen Level and Genetic Variation in FGA Gene on Korean Stroke Patients (피브리노겐의 수치 및 중요한 아미노산 변형 돌연변이가 뇌중풍에 미치는 영향)

  • Yang, Yong-Jun;Shin, Yong-Cheol;Ko, Seong-Gyu
    • Journal of Society of Preventive Korean Medicine
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    • v.14 no.1
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    • pp.111-123
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    • 2010
  • Backgrounds : Stroke is characterized by loss of brain functions due to a disturbance in the blood vessels supplying blood to the brain, and classified into hemorrhage and ischemia. Stroke is known to be affected by genetic factors and other diseases such as hypertension and cardiovascular diseases. However, the distinctive association between stroke and genetic variations has not discovered yet. Objectives : This study investigated the effects of fibrinogen level and genetic variations in FGA (Fibrinogen alpha chain) gene on stroke in Korean stroke patients and controls. Methods : DNA samples from 674 stroke patients diagnosed by Oriental medical hospitals and 267 controls were used in this study. Two common single nucleotide polymorphism(SNP) with high minor allele frequency(MAF), rs2070011G/A of promoter region and nonsynonymous rs6050A/G of exon 5 in FGA gene, were targeted for Taqman genotyping. Because the TOAST classification is important to the factors and symptoms of stroke, ischemic patients were further classified into five subtypes using diagnosis and clinical data. One-way ANOVA and chi-square test were used for clinical data and genetic association, respectively. Haploview v4.1 program was used for linkage disequilibrium(LD), haplotype and haplotype block analysis. Results : The levels of red blood cells and fibrinogen from clinical data were shown to be significant factors for the sub-groups of TOAST classification. No significant associations of stroke, hemorrhage, ischemic and subtypes of TOAST with rs2070011 and rs6050 of FGA gene were found(P > 0.05). However, rs2070011 in promoter region and nonsynonymous rs6050 in exon 5 which produce the amino acid change from threonine to alanine showed a haplotype block and three haplotypes of A-G, G-A, A-A, suggesting that rs2070011 and rs6050 might be co-segregated in generic recombination. Although A-A haplotype of stroke patients showed 64-69% low frequency compared to controls, there was no significant association between stroke and haplotype(P > 0.05). Conclusion : This study showed that there was no significant association between stroke and two SNP of rs2070011G/A and nonsynonymous rs6050A/G in FGA gene. However, these two SNP compose a haplotype block and three haplotypes of A-G, G-A, A-A. This finding suggests that rs2070011 and rs6050 are so close as to be positioned as linkage disequilibrium. Nevertheless, no significant association between haplotypes and stroke was found.

Identification of a SNP in Cattle HGD Gene with its Effect on Economic Trait in Hanwoo (한우 HGD 유전자내 변이지역과 경제형질간의 연관성 분석)

  • Han, Jung-Min;Kong, Hong Sik
    • Journal of Life Science
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    • v.24 no.11
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    • pp.1168-1173
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    • 2014
  • The homogentisate 1,2-dioxygenase (HGD) gene, which consists of 14 exons and spans approximately 42630bp on Bos taurus autosome 1 (BTA 1), is one of the six enzymes required for catabolism of the aromatic amino acids tyrosine and phenylalanine. It has been reported that BTA1 harbors quantitative trait loci that effect marbling score (MS), carcass weight (CW), and longissimus muscle area (LMA) in cattle. The aim of this study was to identify the single nucleotide polymorphisms (SNPs) in the HGD gene and to analyze their association with economic traits in Korean cattle (Hanwoo). Genetic polymorphisms were screened by direct sequencing, which detected 10 SNPs (T11187C, T11301A, T11398G, G29833A, G34256T, G34257C, T34284C, T42333G, T42348C, and T42468C). Six polymorphic sites were selected for genotyping, and economic traits were analyzed using a general linear model in Korean cattle (n=90). The observed genotype frequencies for G34256T were 0.5843(GG), 0.3708(GT), and 0.0449(TT). In addition, 0.3596(GG), 0.3708(GC), and 0.2697(CC) were observed for the G34257C mutation. Statistical association analysis revealed that G34256T polymorphisms were significantly associated with MS, and G34257C polymorphisms were significantly associated with MS and LMA (p<0.05). Further study is needed in order to use the genetic variant as a marker for marker-assisted selection in Korean cattle.

EFFECT OF CALCIUM HYDROXIDE REMNANT AS AN INTRACANAL DRESSING ON THE APICAL LEAKAGE (근관내 잔존 Calcium Hydroxide제재가 치근단 미세누출에 미치는 영향)

  • 신수일;조용범
    • Restorative Dentistry and Endodontics
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    • v.26 no.1
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    • pp.77-85
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    • 2001
  • The purpose of this in vitro study was to compare the apical leakage in extracted teeth filled with gutta-percha subsequent to dressing with one of three different calcium hydroxide preparations. Thirty six extracted teeth with single canal were used in this study. After working length determination, canals were prepared with K flexo files to a #40 at the working length. Step-back flaring was produced by using #45, #50 K flexo files and #2, #3, #4 Gates Glidden burs. The teeth were randomly divided into 3 groups of 10 each : the remaining six teeth were used for negative and positive leakage control: Group 1, dressed with pure calcium hydroxide powder (Sigma, USA) mixed with distilled water; Group 2, dressed with Metapaste (Metadent, Korea) ; Group 3, dressed with Vitapex (Neo Dental, Japan). Teeth were sealed with Caviton (GC, Japan) and incubated in 100% humidity, at 37$^{\circ}C$ for 1 wk. All kinds of calcium hydroxide were removed from the canal with a MAF and 5% NaOCl. The canals were filled with AH-26$^{\circledR}$ sealer and gutta-percha using lateral condensation technique, incubated in 100% humidity, at 37$^{\circ}C$ for 2 days for the sealer to be set. The teeth were coated twice with nail varnish except for an area of approximately 2mm surrounding the apical foramen. All specimens were placed in 2% methylene blue solution for 2 days. The root were sectioned longitudinally, the amount of apical leakage was measured to the most coronal part of the root canal to which the dye had penetrated. The independent measurements were made for each root using a stereomicroscope ($\times$40 magnification) and the average was recorded for statistical analysis. The results were as follows ; 1. The mean of apical leakage in group of pure calcium hydroxide ranged 0.102$\pm$0.156mm, in Metapaste$^{\circledR}$ ranged 0.062$\pm$0.069mm, and in Vitapex$^{\circledR}$ ranged 0.067$\pm$0.072mm. 2. Group of pure calcium hydroxide exhibited more leakage than those of 2 manufactured calcium hydroxide preparations, but it was not statistically significant. 3. Group of water-based Metapaste$^{\circledR}$ showed lesser leakage than that of oil-based Vitapex$^{\circledR}$, but it was not statistically significant.

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BACTERIOLOGIC IN VITRO CORONAL LEAKAGE STUDY OF BEFORE AND AFTER POST SPACE PREPARATION (Streptococcus mutans를 이용한 근관 치료 후 포스트 와동 형성 전후의 치관부 누출에 관한 연구)

  • Lee, Hyo-An;Kim, Eui-Seong
    • Restorative Dentistry and Endodontics
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    • v.30 no.1
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    • pp.16-21
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    • 2005
  • The purpose of present study was to compare the speed of coronal leakage before and after post space preparation using Streptococcus mutans. Forty straight extracted human teeth were selected. The crowns were removed to a uniform remaining root length 14 mm. Canals were enlarged by 06 taper $Profiles^{(R)}$ to a size $\#40$ as a master apical file. And these were filled with gutta percha point and $Tubuliseal^{(R)}$ sealer, using continuous wave technique. Groupings are as follows. Group 1 - These teeth were obturated without sealer. Group 2 - These teeth were obturated and covered the surface of the root completely with sticky wax. Group 3 - These teeth were obturated. Group 4 - These teeth were obturated and prepared for post space remaining 5 mm of gutta percha. The teeth were suspended in plastic tubes. The upper chamber received the bacterial suspension everyday to simulate clinical situation. The lower chamber consisted of BHI added Andrade's indicator. All roots in the positive control group (Group 1) turned yellow within 24 h and those of negative control group (Group 2) remained red throughout the experimental period (70 days) The samples of group 3 were contaminated within an average of 27.2 days. The samples of group 4 were contaminated within an average of 15.7 days, ranging from 9 to 22 days. There was significant difference between group 3 and group 4 statistically (p < 0.05).

Exonic SNP (rs7144, 3’-UTR) in CD46 Molecule and Complement Regulatory Protein (CD46) Gene Associated with Excess Syndrome to Categorize Korean Bronchial Asthma Patients (한국인 기관지 천식 허증(虛證), 실증(實證) 환자와 CD46 유전자 다형성과의 관계)

  • Lee, Mei;Baek, Hyun-jung;Park, Eui-keun;Kim, Kwan-il;Lee, Beom-joon;Kim, Su-kang;Chung, Joo-ho;Kim, Jin-ju;Kim, Mi-a;Jung, Hee-jae;Jung, Sung-ki
    • The Journal of Internal Korean Medicine
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    • v.36 no.4
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    • pp.547-561
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    • 2015
  • Objectives In this study, we divided Korean asthma patients into excess syndrome or deficiency syndrome groups according to clinical phenotype. Genetic analysis was conducted to investigate the association of exonic SNPs in the CD46 gene polymorphism with the clinical phenotype based on the differentiation syndrome of the bronchial asthma patients.Methods There were 95 healthy patients (control group) and 53 asthma patients. (The deficiency syndrome group included 24 and the excess syndrome group 29). We searched the exonic areas of the CD46 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. We finally selected two SNPs: rs138843816, Ser13Phe and rs7144, 3’-UTR. Hardy-Weinberg equilibrium was calculated using SNPStats.Results There were significant differences in the codominant 1 model and the dominant model between the healthy group and the asthma group. There were significant differences between deficiency syndrome group and the excess syndrome group in the genotype frequencies and in the codominant 1 model, the dominant model, and the log-additive model. The allele frequency of rs7144C showed a significant difference between the deficiency syndrome group and the excess syndrome group. Two-SNP haplotype analysis showed a significant difference in frequency in the deficiency syndrome group and in the excess syndrome group. There were significant differences between the healthy group and the excess syndrome group in the codominant 1 model, the dominant model, and the log-additive model. The frequency of the rs7144 C allele exhibited a significant difference in the demonstration. SNP haplotype analysis between the healthy group and the excess syndrome group showed a significant difference in the frequency of the CT haplotype and the CC haplotype.Conclusions The results indicate that two CD46 SNPs (rs138843816, Ser13Phe and rs7144, 3′–UTR) might be associated with the symptomatic excess syndrome in Korean asthma patients.