• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.49-52
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• 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK ) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA. Laboratory tests revealed a profound deficiency of Ig isotypes, and a decreased count of $CD19^+$ B cells in the peripheral circulation. Based on his family history and our laboratory test results, he was diagnosed with XLA. We performed BTK gene analysis of peripheral blood samples obtained from family members to confirm the diagnosis. Mutational analysis revealed a novel hemizygous frameshift mutation (c.82delC, p.Arg28Alafs*5), in the BTK gene. His mother and maternal grandmother were heterozygous carriers of this mutation and his two maternal uncles were hemizygous at the same position. After XLA diagnosis, intravenous immunoglobulin (400 mg/kg, monthly) treatment was initiated; recurrent sinusitis and otitis media were subsequently brought under control. To our knowledge, this is the first reported case of a Korean pedigree with a novel mutation in the BTK gene.

• Asian-Australasian Journal of Animal Sciences
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• v.22 no.7
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• pp.923-930
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• 2009

This study was conducted to compare three models: two random regression models with and without considering heterogeneity in the residual variances and a lactation model (LM) for evaluating the genetic ability of Holstein cows in Korea. Two datasets were prepared for this study. To apply the test-day random regression model, 94,390 test-day records were prepared from 15,263 cows. The second data set consisted of 14,704 lactation records covering milk production over 305 days. Raw milk yield and composition data were collected from 1998 to 2002 by the National Agricultural Cooperative Federation' dairy cattle improvement center by way of its milk testing program, which is nationally based. The pedigree information for this analysis was collected by the Korean Animal Improvement Association. The random regression models (RRMs) are single-trait animal models that consider each lactation record as an independent trait. Estimates of covariance were assumed to be different ones. In order to consider heterogeneity of residual variance in the analysis, test-days were classified into 29 classes. By considering heterogeneity of residual variance, variation for lactation performance in the early lactation classes was higher than during the middle classes and variance was lower in the late lactation classes than in the other two classes. This may be due to feeding management system and physiological properties of Holstein cows in Korea. Over classes e6 to e26 (covering 61 to 270 DIM), there was little change in residual variance, suggesting that a model with homogeneity of variance be used restricting the data to these days only. Estimates of heritability for milk yield ranged from 0.154 to 0.455, for which the estimates were variable depending on different lactation periods. Most of the heritabilities for milk yield using the RRM were higher than in the lactation model, and the estimate of genetic variance of milk yield was lower in the late lactation period than in the early or middle periods.

• Journal of Animal Science and Technology
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• v.48 no.3
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• pp.337-344
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• 2006

The objective of this study was to compare of genetic parameter estimates on carcass traits of Hanwoo(Korean Cattle) according to modeling with Gibbs sampler and MTDFREML. The data set consisted of 1,941 cattle records with 23,058 animals in pedigree files at Hanwoo Improvement Center. The variance and covariance among carcass traits were estimated via Gibbs sampler and MTDFREML algorithms. The carcass traits considered in this study were longissimus dorsi area, backfat thickness, and marbling score. Genetic parameter estimates using Gibbs sampler and MTDFREML from single-trait analysis were similar with those from multiple-trait analysis. The estimated heritabilities using Gibbs sampler were .52～.54, .54 ～.59, and .42～.44 for carcass traits. The estimated heritabilities using MTDFREML were .41, .52～.53, and .31～.32 for carcass traits. The estimated genetic correlation using Gibbs sampler and MTDFREML of LDA between BF and MS were negatively correlated as .34～.36, .23～.37. Otherwise, genetic correlation between BF and MS was positive genetic correlation as .36～.44. The correlations of breeding value for marbling score between via MTDFREML and via Gibbs sampler were 0.989, 0.996 and 0.985 for LDA, BF and MS respectively.

• Horticultural Science & Technology
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• v.34 no.3
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• pp.488-494
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• 2016

To develop appropriate potato clones as functional food materials, we collected 35 potato breeding clones to analyze the contents of the total polyphenol, anthocyanin, and vitamin C with the 'Superior', 'Dasom valley', and 'Gogu valley' cultivars as controls. Based on our analysis great differences were observed in different potato clones. KPG16 had the highest content of total polyphenol at $105.08mg{\cdot}100g^{-1}\;FW$; KPG13 had the highest content of anthocyanin at ${\cdot}4.78mg100g^{-1}\;FW$; KPG20 had the highest content of vitamin C at $22.16mg{\cdot}100g^{-1}\;FW$. Some clones had higher contents of the total polyphenol but lower levels of anthocyanin. Ultimately, potato clones showing relatively high indexes for all three compounds, could be considered as good functional food material. By equilibrium analysis of the contents of total polyphenol, anthocyanin, and vitamin C, KPG5 showed relatively higher contents, with values of 103.95, 3.15, $12.12mg{\cdot}100g^{-1}\;FW$, respectively. Therefore, KPG5 was considered to be the best potato breeding clone in view of a functional potato breeding system.

• Horticultural Science & Technology
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• v.34 no.1
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• pp.142-153
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• 2016

The present study investigated identification of cultivars through phylogenetic analysis of 108 Citrus varieties and related cultivars using simple sequence repeat (SSR) markers. Two hundred three SSR primer pairs were used to detect polymorphic markers among 8 Citrus cultivars consisting of 4 mandarins, 1 orange, 1 tangor, 1 tangelo, and 1 pumelo. Eighteen SSR primer pairs were reproducible and showed highly polymorphic alleles. These markers were applied to assess genetic variations of the 108 varieties. Each marker detected 5-14 alleles, with an average of 9.28. The polymorphism information content varied from 0.417 to 0.791 with an average of 0.706. Cluster analysis with SSR markers resulted in 13 major groups reflecting cultivar types and pedigree information. Twelve orange cultivars in the $I-1^{st}$ sub-cluster and 23 mandarin cultivars in the $II-1^{st}$ sub-cluster, respectively, were not discriminated using the SSR markers. This could be due to narrow genetic backgrounds originated through bud mutation or nucellars seedlings. The SSR profile database of Citrus cultivars will be useful as a tool for protection of plant breeders' intellectual property rights in addition to assessing genetic diversity in Citrus cultivars and germplasms.

• Journal of Life Science
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• v.32 no.4
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• pp.279-284
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• 2022

This study was conducted to establish a genetic evaluation system applicable to general farms for improving cows raised on farms. The analysis used Best Linear Unbiased Prediction (BLUP) and Genomic Best Linear Unbiased Prediction (GBLUP) for 619 cows raised in Gyeonggi-do Province and compared and analyzed the accuracy of the estimated breeding value according to four traits (carcass weight, loineye muscle area, back fat thickness, and marbling). In the case of the GBLUP method, the size of the reference population was divided into different four groups and analyzed. The analysis results confirmed that the accuracy of the breeding value of each trait increased as the size of the GBLUP reference population increased. Comparing the accuracy of the breeding values estimated using the BLUP and GBLUP methods, it was confirmed that when the breeding values were estimated using the GBLUP method, they increased by 0.10, 0.09, 0.09, and 0.11 for carcass weight, eye muscle area, back fat thickness, and marbling scores, respectively. Applying the GBLUP method to the evaluation and selection of cows can enable precise and accurate individual selection, while increasing the size of the reference population can make even more accurate individual selection possible, thus increasing selection efficiency.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.51 no.spc1
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• pp.283-291
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• 2006

To investigate seed non destructive and fast determination technique utilizing near infrared reflectance spectroscopy (NIRs) for screening ultra high oleic (C18:1) and linoleic (C18:2) fatty acid content sesame varieties among genetic resources and lines of pedigree generations of cross and mutation breeding were carried out in National Institute of Crop Science (NICS). 150 among 378 landraces and introduced cultivars were released to analyse fatty acids by NIRs and gas chromatography (GC). Average content of each fatty acid was 9.64% in palmitic acid (C16:0), 4.73% in stearic acid (C18:0), 42.26% in oleic acid and 43.38% in linoleic acid by GC. The content range of each fatty acid was from 7.29 to 12.27% in palmitic, 6.49% from 2.39 to 8.88% in stearic, 12.59% of wider range compared to that of stearic and palmitic from 37.36 to 49.95% in oleic and of the widest from 30.60 to 47.40% in linoleic acid. Spectrums analyzed by NIRs were distributed from 400 to 2,500 nm wavelengths and varietal distribution of fatty acids were appeared as regular distribution. Varietal differences of oleic acid content good for food processing and human health by NIRs was 14.08% of which 1.49% wider range than that of GC from 38.31 to 52.39%. Varietal differences of linoleic acid content by NIRs was 16.41% of which 0.39% narrower range than that of GC from 30.60 to 47.01%. Varietal differences of oleic and linoleic acid content in NIRs analysis were appeared relatively similar inclination compared with those of GC. Partial least square regression (PLSR) among multiple variant regression (MVR) in NIRs calibration statistics was carried out in spectrum characteristics on the wavelength from 700 to 2,500 nm with oleic and linoleic acids. Correlation coefficient of root square (RSQ) in oleic acid content was 0.724 of which 72.4 percent of sample varieties among all distributed in the range of 0.570 percent of standard error when calibrated (SEC) which were considerably acceptable in statistic confidence significantly for analysis between NIRs and GC. Standard error of cross validation (SECV) of oleic acid was 0.725 of which distributed in the range of 0.725 percent standard error among the samples of mother population between analyzed value by NIRs analysis and analyzed value by GC. RSQ of linoleic acid content was 0.735 of which 73.5 percent of sample varieties among all distributed in the range of 0.643 percent of SEC. SECV of linoleic acid was 0.711 of which distributed in the range of 0.711 percent standard error among the samples of mother population between NIRs analysis and GC analysis. Consequently, adoption NIR analysis for fatty acids of oleic and linoleic instead that of GC was recognized statistically significant between NIRs and GC analysis through not only majority of samples distributed in the range of negligible SEC but also SECV. For enlarging and increasing statistic significance of NIRs analysis, wider range of fatty acids contented sesame germplasm should be kept on releasing additionally for increasing correlation coefficient of RSQ and reducing SEC and SECV in the future.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.81-86
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• 2009

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

• Journal of Embryo Transfer
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• v.19 no.3
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• pp.291-299
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• 2004

Characterization of quantitative trait loci (QTL) was investigated in the experimental cross population between Berkshire and Yorkshire breed. A total of 512 F$_2$ offspring from 65 matting of F$_1$ parents were phenotyped the carcass traits included average daily gain (ADG), average backfat thickness (ABF), tenth rip backfat thickness (TRF), loin eye area (LEA), and last rip backfat thickness (LRF). All animals were genotyped for 125 markers across the genome. Marker linkage maps were derived and used in QTL analysis based on line cross least squares regression interval mapping. A decision tree to identify QTL with imprinting effects was developed based on tests against the Mendelian mode of QTL expression. To set the evidence of QTL presence, empirical significance thresholds were derived at chromosome-wise and genome-wise levels using specialized permutation strategies. Significance thresholds derived by the permutation test were validated in the data set based on simulation of a pedigree and data structure similar to the Berkshire-Yorkshire population. Genome scan revealed significant evidences for 13 imprinted QTLs affecting growth and body compositions of which nine were identified to be QTL with paternally expressed inheritance mode. Four of QTLs in the loin eye area (LEA), and tenth rip backfat thickness (TRF), a maternally expressed QTL were found on chromosome 10 and 12. These results support the useful statistical models to analyse the imprinting far the QTLs related carcass trait.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.1
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• pp.43-50
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• 2016

Quantitative trait locus (QTL) is a particular region of the genome containing one or more genes associated with economically important quantitative traits. This study was conducted to identify QTL regions for body weight and growth traits in purebred Korean native chicken (KNC). F1 samples (n = 595) were genotyped using 127 microsatellite markers and 8 single nucleotide polymorphisms that covered 2,616.1 centi Morgan (cM) of map length for 26 autosomal linkage groups. Body weight traits were measured every 2 weeks from hatch to 20 weeks of age. Weight of half carcass was also collected together with growth rate. A multipoint variance component linkage approach was used to identify QTLs for the body weight traits. Two significant QTLs for growth were identified on chicken chromosome 3 (GGA3) for growth 16 to18 weeks (logarithm of the odds [LOD] = 3.24, Nominal p value = 0.0001) and GGA4 for growth 6 to 8 weeks (LOD = 2.88, Nominal p value = 0.0003). Additionally, one significant QTL and three suggestive QTLs were detected for body weight traits in KNC; significant QTL for body weight at 4 weeks (LOD = 2.52, nominal p value = 0.0007) and suggestive QTL for 8 weeks (LOD = 1.96, Nominal p value = 0.0027) were detected on GGA4; QTLs were also detected for two different body weight traits: body weight at 16 weeks on GGA3 and body weight at 18 weeks on GGA19. Additionally, two suggestive QTLs for carcass weight were detected at 0 and 70 cM on GGA19. In conclusion, the current study identified several significant and suggestive QTLs that affect growth related traits in a unique resource pedigree in purebred KNC. This information will contribute to improving the body weight traits in native chicken breeds, especially for the Asian native chicken breeds.