• Title/Summary/Keyword: genotype prediction

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Genetic evaluation for economic traits of commercial Hanwoo population using single-step GBLUP

  • Gwang Hyeon Lee;Khaliunaa Tseveen;Yoon Seok Lee;Hong Sik Kong
    • Journal of Animal Reproduction and Biotechnology
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    • v.38 no.4
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    • pp.268-274
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    • 2023
  • Background: Recently, the single-step genomic best linear unbiased prediction (ssGBLUP) method, which incorporates not only genomic information but also phenotypic information of pedigree, is under study. In this study, we performed a ssGBLUP analysis on a commercial Hanwoo population using phenotypic, genotypic, and pedigree data. Methods: The test population comprised Hanwoo 1,740 heads raised in four regions of Korea, while the reference population used Hanwoo 18,499 heads raised across the country and two-generation pedigree data. Analysis was performed using genotype data generated by the Hanwoo 50 K SNP beadchip. Results: The mean Genome estimated breeding values (GEBVs) estimated using the ssGBLUP methods for carcass weight (CWT), eye muscle area (EMA), back fat thickness (BFT), and marbling score (MS) were 7.348, 1.515, -0.355, and 0.040, respectively, while the accuracy of each trait was 0.749, 0.733, 0.769, and 0.768, respectively. When the correlation analysis between the GEBVs as a result of this study and the actual slaughter performance was confirmed, CWT, EMA, BFT, and MS were reported to be 0.519, 0.435, 0.444, and 0.543, respectively. Conclusions: Our results suggest that the ssGBLUP method enables a more accurate evaluation because it conducts a genetic evaluation of an individual using not only genotype information but also phenotypic information of the pedigree. Individual evaluation using the ssGBLUP method is considered effective for enhancing the genetic ability of farms and enabling accurate and rapid improvements. It is considered that if more pedigree information of reference population is collected for analysis, genetic ability can be evaluated more accurately.

Accuracy of genomic breeding value prediction for intramuscular fat using different genomic relationship matrices in Hanwoo (Korean cattle)

  • Choi, Taejeong;Lim, Dajeong;Park, Byoungho;Sharma, Aditi;Kim, Jong-Joo;Kim, Sidong;Lee, Seung Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.7
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    • pp.907-911
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    • 2017
  • Objective: Intramuscular fat is one of the meat quality traits that is considered in the selection strategies for Hanwoo (Korean cattle). Different methods are used to estimate the breeding value of selection candidates. In the present work we focused on accuracy of different genotype relationship matrices as described by forni and pedigree based relationship matrix. Methods: The data set included a total of 778 animals that were genotyped for BovineSNP50 BeadChip. Among these 778 animals, 72 animals were sires for 706 reference animals and were used as a validation dataset. Single trait animal model (best linear unbiased prediction and genomic best linear unbiased prediction) was used to estimate the breeding values from genomic and pedigree information. Results: The diagonal elements for the pedigree based coefficients were slightly higher for the genomic relationship matrices (GRM) based coefficients while off diagonal elements were considerably low for GRM based coefficients. The accuracy of breeding value for the pedigree based relationship matrix (A) was 13% while for GRM (GOF, G05, and Yang) it was 0.37, 0.45, and 0.38, respectively. Conclusion: Accuracy of GRM was 1.5 times higher than A in this study. Therefore, genomic information will be more beneficial than pedigree information in the Hanwoo breeding program.

A Case of Galactosemia with Novel Mutation in the GALT Gene (새로운 GALT 유전자의 돌연변이에 의한 갈락토스혈증)

  • Kim, Shin Ah;Shin, Young Lim;Hong, Yong Hee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.2
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    • pp.126-130
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    • 2013
  • Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

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Accuracy of Imputation of Microsatellite Markers from BovineSNP50 and BovineHD BeadChip in Hanwoo Population of Korea

  • Sharma, Aditi;Park, Jong-Eun;Park, Byungho;Park, Mi-Na;Roh, Seung-Hee;Jung, Woo-Young;Lee, Seung-Hwan;Chai, Han-Ha;Chang, Gul-Won;Cho, Yong-Min;Lim, Dajeong
    • Genomics & Informatics
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    • v.16 no.1
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    • pp.10-13
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    • 2018
  • Until now microsatellite (MS) have been a popular choice of markers for parentage verification. Recently many countries have moved or are in process of moving from MS markers to single nucleotide polymorphism (SNP) markers for parentage testing. FAO-ISAG has also come up with a panel of 200 SNPs to replace the use of MS markers in parentage verification. However, in many countries most of the animals were genotyped by MS markers till now and the sudden shift to SNP markers will render the data of those animals useless. As National Institute of Animal Science in South Korea plans to move from standard ISAG recommended MS markers to SNPs, it faces the dilemma of exclusion of old animals that were genotyped by MS markers. Thus to facilitate this shift from MS to SNPs, such that the existing animals with MS data could still be used for parentage verification, this study was performed. In the current study we performed imputation of MS markers from the SNPs in the 500-kb region of the MS marker on either side. This method will provide an easy option for the labs to combine the data from the old and the current set of animals. It will be a cost efficient replacement of genotyping with the additional markers. We used 1,480 Hanwoo animals with both the MS data and SNP data to impute in the validation animals. We also compared the imputation accuracy between BovineSNP50 and BovineHD BeadChip. In our study the genotype concordance of 40% and 43% was observed in the BovineSNP50 and BovineHD BeadChip respectively.

Associations of ABCB1 and XPC Genetic Polymorphisms with Susceptibility to Colorectal Cancer and Therapeutic Prognosis in a Chinese Population

  • Yue, Ai-Min;Xie, Zhen-Bin;Zhao, Hong-Feng;Guo, Shu-Ping;Shen, Yu-Hou;Wang, Hai-Pu
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3085-3091
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    • 2013
  • Associations between ABCB1 and XPC genetic polymorphisms and risk of developing colorectal cancer (CRC) as well as clinical outcomes in CRCs with chemotherapy were investigated. A case-control study was performed on the ABCB1 C3435T, G2677T/A and XPC Lys939Gln polymorphisms in 428 CRC cases and 450 hospitalbased, age and sex frequency-matched controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays. We observed that the ABCB1 3435CT or CC+CT variants were significantly linked with increasing risk of developing CRC (adjusted OR (95% CI): 1.814 (1.237-2.660), P=0.0022; adjusted OR (95% CI): 1.605 (1.117-2.306), P=0.0102, respectively). Moreover, the distribution frequency of XPC AC genotype or AC+CC genotypes also showed a tendency towards increasing the suscepbility for CRC (P=0.0759 and P=0.0903, respectively). Kaplan-Meier curves showed that the ABCB1 C3435T variant was associated with a tendency toward longer progression-free survival (PFS) (n=343, Log-rank test: P=0.063), and the G2677T/A variant genotypes (GT+TT+GA+AA) with a tendency for longer OS in postoperative oxaliplatin-based patients (n=343, Log-rank test: P=0.082). However, no correlation of the XPC Lys939Gln polymorphism was found with PFS and OS in patients with postoperative oxaliplatin-based chemotherapy (n=343). Our study indicated that ABCB1 polymorphisms might be candidate pharmacogenomic factors for the prediction of CRC susceptibility, but not for prognosis with oxaliplatin chemosensitivity in CRC patients.

Effect of Temperature and Leaf Wetness Period on the Components of Resistance to Late Leaf Spot Disease in Groundnut

  • Pande, Suresh;Rajesh, T.Ratna;Kishore, G.Krishna
    • The Plant Pathology Journal
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    • v.20 no.1
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    • pp.67-74
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    • 2004
  • A complete understanding of the epidemiological factors required for optimum for disease development facilitates the design of effective and reliable screening techniques and also disease prediction models. An attempt was made to study the effects of different temperatures ($15-35^{\circ}C$) and leaf wetness periods (4-24 h) on the development of late leaf spot (LLS) in three groundnut genotypes differing in their susceptibility to LLS infection. Irrespective of the genotype, the disease progress evaluated based on different components of resistance was maximum between $15-20^{\circ}C$ and minimum between $20-25^{\circ}C$. At temperatures $\geq$$30^{\circ}C$, LLS development was insignificant. The overall severity of LLS increased with an increase in the leaf wetness period from 4 h to 12 h a day. Further increase of wetness period to 16 h resulted in a rapid increase in the severity. Thereafter, the disease severity gradually decreased with an increase in the wetness period. The effect of temperature and wetness periods on the individual component of disease quantification was not uniform compared between genotypes with different levels of susceptibility/resistance to LLS infection. The results of this study indicate that temperature and leaf wetness period are critical in late leaf spot screening programs since the expression of disease symptoms measured from disease initiation till defoliation, varied differently in the test genotypes with respect to change in these two parameters.

The Study on Association of Calcium Channel SNPs with Adverse Drug Reaction of Calcium Channel Blocker in Korean

  • Chung, Myeon-Woo;Bang, Sy-Rie;Jin, Sun-Kyung;Woo, Sun-Wook;Lee, Yoon-Jung;Kim, Young-Sik;Lee, Jong-Keuk;Lee, Sung-Ho;Roh, Jae-Sook;Chung, Hye-Joo
    • Biomolecules & Therapeutics
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    • v.15 no.3
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    • pp.156-161
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    • 2007
  • Rapid advances in pharmacogenomic research have provided important information to improve drug selection, to maximize drug efficacy, and to minimize drug adverse reaction. The SNPs that are the most abundant type of genetic variants have been proven as valid biomarkers to give information on the prediction of pharmacokinetic/pharmacodynamic properties of drugs based on genotype. In order to elucidate a correlation between SNPs of calcium channel encoding gene and adverse reactions of calcium channel blockers, we investigated SNPs in CACNA1C gene known as a binding site of calcium channel blocker. 96 patients with hypertension who had taken or are taking an antihypertensive drug, 1,4-dihydropyridine (DHP) were included for analysis. These patients were composed of 47 patients with adverse drug reactions (ADR) such as edema from calcium channel blockers and 49 patients without ADR as a control group. The exons encoding the drug binding sites were amplified by PCR using specific primers, and SNPs were analyzed by direct sequencing. We found that there was no SNP in the exons encoding DHP binding site, but four novel SNPs in the exon-intron junction region. However, four novel SNPs were not associated with the ADR of calcium channel blockers. In conclusion, this study showed that ADR from calcium channel blockers may not be caused by SNPs of the binding sites of calcium channel blockers in CACNA1C gene.

Major gene identification for FASN gene in Korean cattles by data mining (데이터마이닝을 이용한 한우의 우수 지방산합성효소 유전자 조합 선별)

  • Kim, Byung-Doo;Kim, Hyun-Ji;Lee, Seong-Won;Lee, Jea-Young
    • Journal of the Korean Data and Information Science Society
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    • v.25 no.6
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    • pp.1385-1395
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    • 2014
  • Economic traits of livestock are affected by environmental factors and genetic factors. In addition, it is not affected by one gene, but is affected by interaction of genes. We used a linear regression model in order to adjust environmental factors. And, in order to identify gene-gene interaction effect, we applied data mining techniques such as neural network, logistic regression, CART and C5.0 using five-SNPs (single nucleotide polymorphism) of FASN (fatty acid synthase). We divided total data into training (60%) and testing (40%) data, and applied the model which was designed by training data to testing data. By the comparison of prediction accuracy, C5.0 was identified as the best model. It were selected superior genotype using the decision tree.

Investigation of Norovirus Occurrence and Influence of Environmental Factors in Food Service Institutions of ChungCheong Area (충청지역 집단급식소의 노로바이러스 실태조사와 환경요인의 영향)

  • Jung, Woo-Young;Eom, Joon-Ho;Kim, Byeong-Jo;Yun, Min-Ho;Ju, In-Sun;Kim, Chang-Soo;Kim, Mi-Ra;Byun, Jung-A;Park, You-Gyoung;Son, Sang-Hyuck;Lee, Eun-Mi;Jung, Rae-Seok;Na, Mi-Ae;Yuk, Dong-Yeon;Gang, Ji-Yeon;Heo, Ok-Sun
    • Journal of Food Hygiene and Safety
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    • v.25 no.2
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    • pp.153-161
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    • 2010
  • The purpose of this study was to examine the appearance of norovirus in the water for food in food service institutions and the influence of physicochemical and microbial factors of norovirus in order to work out basic data to predict the detection of norovirus. Among 82 samples of water for food in food service institutions, norovirus appeared in 7 samples and the rate of appearance was 8.5%. As for the type of norovirus, one samples contained GI type (genotype GI-6) and six samples contained GII type (genotype GII-2, GII-4, GII-12). In the regression model of prediction of norovirus, the rate of appearance was correlated with $NH_3$-N, total solids and the consumption of $KMnO_4$, out of such variables as $NH_3$-N, total solids, the consumption of $KMnO_4$, depth, chloride and total colony counts, and its contribution rate for effectiveness was 78.60%. In order to examine the influential factor of environment upon the detection of norovirus, Pearson's correlation analysis was carried out. The predictable regression formula for appearance rate of norovirus was expressed as -1.818 + 42.677 [$NH_3$-N] + 0.023 [total solids] + 0.762 [consumption of $KMnO_4$] -0.009 [depth] -0.146 [chloride] + 0.007 [total colony counts] (R = 0.904, $R^2$ = 0.818, adjusted $R^2$ = 0.786, p < 0.05). The most influential factors upon the detection of norovirus were $NH_3$-N, total solids and the consumption of $KMnO_4$. In other words, when the measured values of $NH_3$-N, total solids and the consumption of $KMnO_4$ were higher, the possibility of appearance of norovirus increased.

EFFECTS OF AGE AND SEX ON BODY COMPOSITION OF THAI NATIVE AND CROSS-BRED GOATS

  • Pralomkarn, W.;Ngampongsai, W.;Choldumrongkul, S.;Kochapakdee, S.;Lawpetchara, A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.8 no.3
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    • pp.255-261
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    • 1995
  • This paper presents results from a study of the effects of age and sex on body and carcass composition of different goat genotypes. A completely randomized $3{\times}3{\times}2$ factorial design was used. Factors were genotype (Thai Native; TN, $50%TN{\times}50%$ Anglo-Nubian (AN) and $25%TN{\times}75%AN$ goats), age ($206{\pm}8$, $349{\pm}9$ and $428{\pm}8days$ or 6.9, 11.6 and 14.3 months, respectively) and sex (male and female). It was shown that TN kids had significantly higher (p < 0.05) hind percentage (7.9%) compared with $50%TN{\times}50% AN$ (7.2%) and $25%TN{\times}75%AN$ (7.1 %) kids. TN kids had a significantly (p < 0.05) higher heart percentage (0.44%) than that of $25%TN{\times}75%AN$ kids (0.38%). However, there was no significant difference in heart percentage between TN and $50%TN{\times}50%AN$ and between $50% TN{\times}50%AN$ and $25%TN{\times}75%AN$ kids. TN and $50%TN{\times}50%AN$ kids had significantly higher (p < 0.05) carcass muscle content (63.1 and 63.7%, respectively) than did $25%TN{\times}75%AN$ kids (59.9%). Kids at 6.9 months of age had significantly higher percentages of hide, feet, intestinal tract, liver, heart, kidneys and carcass bone than those of kids at 11.6 and 14.3 months of age. There were no significant differences in these characteristics between kids at 11.6 and 14.3 months of age. However, kids at 11.6 and 14.3 months of age had significantly higher percentages of omental fat, dressing carcass, muscle, total fat (subcutaneous + intermuscular + kidney and pelvic fat), muscle to bone ratios (MBR), and muscle plus fat to bone ratios (MFBR) than those of kids at 6.9 months. Males had significantly higher gut contents, but lower percentages of liver, omental fat and heart. Prediction equations were developed relating empty body weight (EBW) to hot carcass weight and some dissectible carcass fractions.