• Title/Summary/Keyword: Population Genetics

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The Variation of Natural Population of Pinus densiflora S. et Z. in Korea(I) -Characteristics of Needle and Wood of Chuwang-san, An-Myeon-do and Odae-san Populations- (소나무 천연집단(天然集團)의 변이(變異)에 관(關)한 연구(硏究)(I))

  • Yim, Kyong-Bin;Kim, Zin-Suh
    • Journal of Korean Society of Forest Science
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    • v.28 no.1
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    • pp.1-20
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    • 1975
  • F$\ddot{u}$r die Erforschllng der Variationen bei der Naturpopulationen der Pinus densifiora wurden drei Populationen aus Chuwangsan (Kyong-buk), Anmyondo (Chung-nam) und Odaesan (Kangwon) Ausgewiiblt. Bei je 20 Individuen jeder Population wurden die Variationen von der Eigenschaft der $\ddot{a}$usseren Gestalt, von der anatomischen und morphologischen Eigenschaft der Kiefernadel und von der Holzqualit$\ddot{a}$t an Bohrsp$\ddot{a}$nen untersucht. Das Ergebnis der Untersuchung konnte in den folgenden sechs Punkten formuliert werden. 1. Von den Eigenschaften der $\ddot{a}$usseren Gestalt ist die Geradheit des Baumstamms, der Durchmesser der Zweige und der Winkel der Verzweigung in der Odaesan Population wlinschenswerter als in anderen Populationen. 2. Es wird festgestellt, dass sich die drei Nadelmerkmale, Anzahl der Z$\ddot{a}$hne je 0.5 cm, Anzahl der Stomata-Reihen und Anzahl der Harzkan$\ddot{a}$le, sowohl zwischen den Populationen als auch zwischen den Individuen signignifikant unterscheiden. 3. Bei der Betrachtung des Harzkanal Index, der Schichtanzahl der Hypodermis und der Entfernung der Fibrovasalb$\ddot{u}$ndel wird aufgezeigt, dass sich alle drei gepr$\ddot{u}$ften Populationen geringf$\ddot{u}$gig von der normalen Kiefer unterscheiden. 4. Zwischen den Populationen ergibt sich ein Unterschied im Prozentanteil des Spatho lzes und im spezifischen Geswicht, jedoch zeigt die Breite der Jahresrings und die Tracheidenl$\ddot{a}$nge keinen Unterschied. Das spezifische Gewicht und die Tracheidenl$\ddot{a}$nge der Individuen jeder Population ist signifikant verschieden. 5. Bei dem Alter 11-20 ist der Prozentanteil des sp$\ddot{a}$tholzes am gr$\ddot{o}$ssten und wird aber danach immer geringer bis zum Alter 30; sp$\ddot{a}$ter zeigt sich dann keine sichtbare Ver$\ddot{a}$nderung mehr. Das spezifische Gewicht sich vergr$\ddot{o}$ssert bei der Zunahme des Jahresrings, nimmt aber dann in Anmyondo und Odaesan Populationen beim Alter 21-30 wieder ab. Die Tracheidenl$\ddot{a}$nge der drei Populationen besitzen die Neigung, sich nach der zunahme der Jahresringe zu vermehren. 6. Mit diesen hier behandelten Charakteren werden ganz allgemeinen die Unterschiede der drei Kiefer populationen festgestellt. Diese Ergebnisse sind sehr bemerkenswert betrachtet vom genetischen Gesichtspunkt der waldbaumpopulation.

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Comparison of B and Q biotype distribution, insecticidal mortality, and TYLCV viruliferous rate between Korean and Chinese local populations of Bemisia tabaci (한국과 중국 채집 담배가루이 지역계통의 B, Q biotype 분포 및 살충제 약제반응, 토마토황화잎말림바이러스 보독율 비교)

  • Jeong, In-Hong;Park, Bueyong;Lee, Gwan-Seok;Wu, Qiong;Li, Feifei;Zhang, Zhenxing;Zhu, Yongzhe
    • Korean Journal of Environmental Biology
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    • v.38 no.4
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    • pp.616-624
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    • 2020
  • International trade is one of the primary ways that non-native species spread worldwide. Korea and China are geographically close and have a large mutual trade volume. To investigate the population movement of the invasive whitefly(Bemisia tabaci Gennadius) between the two countries, we compared the biotype distribution, insecticidal response, and the TYLCV(tomato yellow leaf curl virus) viruliferous rate of local populations collected in 2019. Based on the mitochondrial DNA COI sequences of B. tabaci, only the Q biotype was found in all populations in Korea, whereas the B biotype (14.3%) and Q biotype (85.7%) were found in China. In the haplotype composition of the B. tabaci Q biotype, only the Q1 group[Q1H1(79.8%) and Q1H2(20.2%)] was observed in China, but the Q1 group [Q1H1(1.7%) and Q1H2(97.5%)] and the Q2 group(only one individual) were found in Korea. The Korean populations showed high mortality(more than 80%) from 15 commercial insecticides, but the Chinese populations showed significantly low mortality from eight insecticides. No TYLCV infections were observed in the Korean populations while the average TYLCV viruliferous rate was 21.4% in the Chinese populations. Taken together, the results suggest that the population structures of B. tabaci in the two countries are different and may have different immigration histories.

Identification of LEF1 as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age

  • Kim, Hea-Ji;Yun, Sin Weon;Yu, Jeong Jin;Yoon, Kyung Lim;Lee, Kyung-Yil;Kil, Hong-Ryang;Kim, Gi Beom;Han, Myung-Ki;Song, Min Seob;Lee, Hyoung Doo;Ha, Kee Soo;Sohn, Sejung;Ebata, Ryota;Hamada, Hiromichi;Suzuki, Hiroyuki;Kamatani, Yoichiro;Kubo, Michiaki;Ito, Kaoru;Onouchi, Yoshihiro;Hong, Young Mi;Jang, Gi Young;Lee, Jong-Keuk;The Korean Kawasaki Disease Genetics Consortium
    • Genomics & Informatics
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    • v.16 no.2
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    • pp.36-41
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    • 2018
  • Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharidosis Type VI (국내 6형 뮤코다당증의 임상 양상, 분자유전학적 특징 및 효소치료의 효과에 대한 고찰)

  • Wichajarn, Khunton;Kim, Jinsup;Yang, Aram;Sohn, Young Bae;Lee, Beom Hee;Yoo, Han-Wook;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.24-33
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    • 2016
  • Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

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Estimating genetic diversity and population structure of 22 chicken breeds in Asia using microsatellite markers

  • Roh, Hee-Jong;Kim, Seung-Chang;Cho, Chang-Yeon;Lee, Jinwook;Jeon, Dayeon;Kim, Dong-kyo;Kim, Kwan-Woo;Afrin, Fahmida;Ko, Yeoung-Gyu;Lee, Jun-Heon;Batsaikhan, Solongo;Susanti, Triana;Hegay, Sergey;Kongvongxay, Siton;Gorkhali, Neena Amatya;Thi, Lan Anh Nguyen;Thao, Trinh Thi Thu;Manikku, Lakmalie
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.12
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    • pp.1896-1904
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    • 2020
  • Objective: Estimating the genetic diversity and structures, both within and among chicken breeds, is critical for the identification and conservation of valuable genetic resources. In chickens, microsatellite (MS) marker polymorphisms have previously been widely used to evaluate these distinctions. Our objective was to analyze the genetic diversity and relationships among 22 chicken breeds in Asia based on allelic frequencies. Methods: We used 469 genomic DNA samples from 22 chicken breeds from eight Asian countries (South Korea, KNG, KNB, KNR, KNW, KNY, KNO; Laos, LYO, LCH, LBB, LOU; Indonesia, INK, INS, ING; Vietnam, VTN, VNH; Mongolia, MGN; Kyrgyzstan, KGPS; Nepal, NPS; Sri Lanka, SBC) and three imported breeds (RIR, Rhode Island Red; WLG, White Leghorn; CON, Cornish). Their genetic diversity and phylogenetic relationships were analyzed using 20 MS markers. Results: In total, 193 alleles were observed across all 20 MS markers, and the number of alleles ranged from 3 (MCW0103) to 20 (LEI0192) with a mean of 9.7 overall. The NPS breed had the highest expected heterozygosity (Hexp, 0.718±0.027) and polymorphism information content (PIC, 0.663±0.030). Additionally, the observed heterozygosity (Hobs) was highest in LCH (0.690±0.039), whereas WLG showed the lowest Hexp (0.372±0.055), Hobs (0.384±0.019), and PIC (0.325±0.049). Nei's DA genetic distance was the closest between VTN and VNH (0.086), and farthest between KNG and MGN (0.503). Principal coordinate analysis showed similar results to the phylogenetic analysis, and three axes explained 56.2% of the variance (axis 1, 19.17%; 2, 18.92%; 3, 18.11%). STRUCTURE analysis revealed that the 22 chicken breeds should be divided into 20 clusters, based on the highest ΔK value (46.92). Conclusion: This study provides a basis for future genetic variation studies and the development of conservation strategies for 22 chicken breeds in Asia.

Malignancy in Patients With Inborn Errors of Immunity Beyond Infectious Complication: Single Center Experience for 30 Years

  • Doo Ri Kim;Kyung-Ran Kim;Hwanhee Park;Joon-sik Choi;Yoonsun Yoon;Sohee Son;Hee Young Ju;Jihyun Kim;Keon Hee Yoo;Kangmo Ahn;Hee-Jin Kim;Eun-Suk Kang;Junhun Cho;Su Eun Park;Kihyun Kim;Yae-Jean Kim
    • Pediatric Infection and Vaccine
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    • v.30 no.3
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    • pp.129-138
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    • 2023
  • Purpose: Cancer incidence is known to be higher in patients with inborn errors of immunity (IEI) compared to the general population in addition to traditionally well-known infection susceptibility. We aimed to investigate cancer occurrence in patients with IEI in a single center. Methods: Medical records of IEI patients treated at Samsung Medical Center, Seoul, Korea were retrospectively reviewed from November 1994 to September 2023. Patients with IEI and cancer were identified. Results: Among 194 patients with IEI, seven patients (3.6%) were diagnosed with cancer. Five cases were lymphomas, 4 of which were Epstein-Barr virus (EBV)-associated lymphomas. The remaining cases included gastric cancer and multiple myeloma. The median age at cancer diagnosis was 18 years (range, 1-75 years). Among patients with cancer, underlying IEIs included X-linked lymphoproliferative disease-1 (XLP-1, n=3), activated phosphoinositide 3-kinase delta syndrome (APDS, n=2), and cytotoxic T-lymphocyte antigen 4 (CTLA-4) haploinsufficiency (n=2). Seventy-five percent (3/4) of XLP-1 patients, 40.0% (2/5) of APDS patients, and 50.0% (2/4) of CTLA-4 haplo-insufficiency patients developed cancer. Patients with XLP-1 developed cancer at earlier age (median age 5 years) compared to those with APDS and CTLA-4 (P<0.001). One patient with APDS died during hematopoietic cell transplantation. Conclusions: Cancer occurred in 3.6% of IEI patients at a single center in Korea. In addition to infectious complications and inflammation, physicians caring for IEI patients should be aware of the potential risk of cancer, especially in association with EBV infection.

The Trend and Achievements of Forest Genetics Research in Abroad (선진국(先進國)에 있어서의 임목육종연구(林木育種硏究)의 동향(動向))

  • Hyun, Sin Kyu
    • Journal of Korean Society of Forest Science
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    • v.14 no.1
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    • pp.1-20
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    • 1972
  • The trend and achievements of forest genetics research in abroad were investigated through observation tours and reference work and following facts were found to be important aspects which should be adopted in the forest genetics research program in Korea. Because of world wide recognization on the urgency of taking a measure to reserve some areas of the representative forest type on the globe before the extingtion of such forest type as the results of continuous exploitations of the natural forests to meet the timber demand all over the world, it is urgently needed to take a measure to reserve certain areas of natural stand of Pinus koraiensis, Pinus parviflora, Pinus densiflora f. erectra, Abies koreana, Quercus sp., Populus sp., etc. as gene pool to be used for the future program of forest tree improvement. And the genetic studies of those natural forest of economic tree species are also to be performed. 1. Increase of the number of selected tree for breeding purpose. Because of the fact that the number of plus tree at present is too small to carry out selection program for tree improvement, particularly for the formation of source population for recurrent selection of parent trees of the 2nd generation seed orchard it is to be strongly emphasized to increase the number of plus tree by alleviating selection criteria in order to enlarge the population size of plus trees to make the selection program more efficient. 2. Progeny testing More stress should be placed on carrying out progeny testing of selected trees with open pollinated seeds. And particular efforts are to be made for conducting studies on adult/juvenile correlation of important traits with a view to enable to predict adult performances with some traits revealed in juvenile age thus to save time for progeny testing. 3. Genotype-environment interaction Studies on genotype and environment interaction should be conducted in order to elucidate whether the plus trees selected on the good site express their superiority on the poor site or not and how the environment affect the genotype. And the justification of present classification of seed distribution area should be examined. 4. Seed orchard of broad leaf tree species. Due to the difficulty of accurate comparison of growth rate of neighbouring trees of broad leaf tree species in natural stand, it is recommended that for the improvement of broad leaf trees a seedling seed orchard is to be made by roguing the progeny test plantation planted densely with control pollinated seedlings of selected trees. 5. Breeding for insect resistant varieties. In the light of the fact that the resistant characteristics against insect such as pine gall midge (Thiecodiplosis japonensis U. et I.) and pine bark beetle (Myelophilus pinipera L.) are highly correlated with the amount and quality of resin which are known as gene controlled characteristics, breeding for insect resistance should be carried out. 6. Breeding for timber properties. With the tree species for pulp wood in particular, emphasis should be placed upon breeding for high specific gravity of timber. 7. Introduction of Cryptomeria and Japanese Cypress In the light of the fact that the major clones of Cryptomeria are originated from Yoshino source and are being planted up to considerably north and high elevation in Japan, those species should be examined on their cold resistance in Korea by planting them in further northern part of the country.

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Genetic Analysis of Ultrasound and Carcass Measurement Traits in a Regional Hanwoo Steer Population

  • Hwang, Jeong Mi;Cheong, Jae Kyoung;Kim, Sam Su;Jung, Bong Hwan;Koh, Myung Jae;Kim, Hyeong Cheol;Choy, Yun Ho
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.4
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    • pp.457-463
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    • 2014
  • Ultrasound measurements of backfat thickness (UBF), longissimus muscle area (ULMA) and marbling score (UMS) and carcass measurements of carcass weight (CW), backfat thickness (BF), longissimus muscle area (LMA), and marbling score (MS) on 7,044 Hanwoo steers were analyzed to estimate genetic parameters. Data from Hanwoo steers that were raised, finished in Hoengseong-gun, Gangwon-do (province) and shipped to slaughter houses during the period from October 2010 to April 2013 were evaluated. Ultrasound measurements were taken at approximately three months before slaughter by an experienced operator using a B-mode real-time ultrasound device (HS-2000, FHK Co. Ltd., Tokyo, Japan) with a 3.5 MHz linear probe. Ultrasound scanning was on the left side between 13th rib and the first lumbar vertebrae. All slaughtering processes and carcass evaluations were performed in accordance with the guidelines of beef grading system of Korea. To estimate genetic parameters, multiple trait animal models were applied. Fixed effects included in the models were: the effects of farm, contemporary group effects (year-season at the time of ultrasound scanning in the models for UBF, ULMA, and UMS, and year-season at slaughter in the models for CW, BF, LMA, and MS), the effects of ultrasound technicians as class variables and the effects of the age in days at ultrasound scanning or at slaughtering as linear covariates, respectively for ultrasound and carcass measures. Heritability estimates obtained from our analyses were 0.37 for UBF, 0.13 for ULMA, 0.27 for UMS, 0.44 for CW, 0.33 for BF, 0.36 for LMA and 0.54 MS, respectively. Genetic correlations were strongly positive between corresponding traits of ultrasound and carcass measures. Genetic correlation coefficient between UBF and BF estimate was 0.938, between ULMA and LMA was 0.767 and between UMS and MS was 0.925. These results suggest that ultrasound measurement traits are genetically similar to carcass measurement traits.

Usefulness of Biochemical Analysis for Human Skeletal Remains Assigned to the Joseon Dynasty in Oknam-ri Site in Seocheon, Korea (조선시대 인골에 대한 생화학적 분석의 유용성: 서천군 옥남리 회곽묘 출토 인골을 중심으로)

  • Kang, So-Yeong;Kwon, Eun-Sil;Moon, Eun-Jung;Cho, Eun-Min;Seo, Min-Seok;Kim, Yun-Ji;Jee, Sang-Hyun
    • Journal of Conservation Science
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    • v.26 no.1
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    • pp.95-107
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    • 2010
  • Biochemical research was carried out on 4 human skeletal remains from historical lime-layered tombs assigned to the Joseon Dynasty in Oknam-ri, Seocheon. The preservation of femur was evaluated by stereoscopic microscopy and scanning electron microscopy. Most of specimens showed good histological preservation. The histological results proved to be a good potentiality for biochemical analysis using bio-molecules. The amelogenin gene and mitochondrial DNA (mtDNA) analyses revealed that three specimens perhaps have maternal consanguinity due to sharing with mtDNA haplogroup D4b1, and two specimens buried in the same tomb were a couple in Gatjaegol site. Carbon and nitrogen stable isotope analysis indicated that four deads diet were built around C3 plant as rice, barley, wheat and bean. In this study we characterized genetic and diet features from the social stratum who could make lime-layered tombs during period of the Joseon Dynasty. The results suggest that biochemical research using the human skeletal remains from the Joseon Dynasty has the great potential and reasonable value for archaeology, anthropology, and population genetics.

The effectiveness of genomic selection for milk production traits of Holstein dairy cattle

  • Lee, Yun-Mi;Dang, Chang-Gwon;Alam, Mohammad Z.;Kim, You-Sam;Cho, Kwang-Hyeon;Park, Kyung-Do;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.3
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    • pp.382-389
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    • 2020
  • Objective: This study was conducted to test the efficiency of genomic selection for milk production traits in a Korean Holstein cattle population. Methods: A total of 506,481 milk production records from 293,855 animals (2,090 heads with single nucleotide polymorphism information) were used to estimate breeding value by single step best linear unbiased prediction. Results: The heritability estimates for milk, fat, and protein yields in the first parity were 0.28, 0.26, and 0.23, respectively. As the parity increased, the heritability decreased for all milk production traits. The estimated generation intervals of sire for the production of bulls (LSB) and that for the production of cows (LSC) were 7.9 and 8.1 years, respectively, and the estimated generation intervals of dams for the production of bulls (LDB) and cows (LDC) were 4.9 and 4.2 years, respectively. In the overall data set, the reliability of genomic estimated breeding value (GEBV) increased by 9% on average over that of estimated breeding value (EBV), and increased by 7% in cows with test records, about 4% in bulls with progeny records, and 13% in heifers without test records. The difference in the reliability between GEBV and EBV was especially significant for the data from young bulls, i.e. 17% on average for milk (39% vs 22%), fat (39% vs 22%), and protein (37% vs 22%) yields, respectively. When selected for the milk yield using GEBV, the genetic gain increased about 7.1% over the gain with the EBV in the cows with test records, and by 2.9% in bulls with progeny records, while the genetic gain increased by about 24.2% in heifers without test records and by 35% in young bulls without progeny records. Conclusion: More genetic gains can be expected through the use of GEBV than EBV, and genomic selection was more effective in the selection of young bulls and heifers without test records.