• Title/Summary/Keyword: Pedigree

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A Familial Case of Hereditary Hemorrhagic Telangiectasia (유전출혈모세혈관확장증을 가진 가족 1예)

  • Kim, Min;Song, Hwa Young;Jeong, Hun;Park, I Nae;Choi, Sang Bong;Lee, Hyun Kyung;Lee, Sung-Soon;Lee, Young Min;Kim, Su Young;Kim, Yong Hoon;Huh, Jin Won
    • Tuberculosis and Respiratory Diseases
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    • v.66 no.4
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    • pp.314-318
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    • 2009
  • Hereditary hemorrhagic telangiectasia (HHT, also called Osler-Weber-Rendu Disease) is a rare systemic fibrovascular dysplasia characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVMs). HHT is an autosomal dominant disease with a prevalence of 1 in 5,000~8,000. Recurrent epistaxis is often the first and most common manifestation, and about 30% of patients reveal pulmonary AVM. Presently, we report a familial case of HHT. A 61-year-old male with asymptomatic multiple pulmonary AVMs was successfully treated with embolization. His older brother who presented with recurrent epistaxis and multiple telangiectasias was treated with laser ablation. Their pedigree revealed a family history of recurrent epistaxis.

Genetic and Phenotypic Evaluation of Milk and Fat Production Traits and Their Interrelationship in (Zebu×European) Crossbred Cattle Using Parent Group Mixed Model

  • Singh, D.;Yadav, A.S.;Dhaka, S.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.16 no.9
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    • pp.1242-1246
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    • 2003
  • Data pertained to 335 crossbred cows comprising of 1/2 Friesian (F) + 1/2 Hariana (H), 1/2 F + 1/4 Jersey (J) + 1/4 H, 1/2 F + 1/4 Brown Swiss (BS) + 1/4 H, 1/2 F + 1/4 Red Dane (R) + 1/4 H, FR (I) and FRH (I) genetic groups extending over a period of 21 years (1970-1990) maintained at Animal Farm of CCS HAU, Hisar. The averages for first lactation milk yield was $2,486.24{\pm}80.26kg$ and peak yield of first three lactation were $11.35{\pm}0.72kg$, $13.97{\pm}0.60kg$ and $16.02{\pm}0.42kg$, respectively. The lifetime milk production was observed as $11,305.16{\pm}1,004.52kg$ in crossbred cattle. The average first lactation fat yield was observed as $102.06{\pm}0.01kg$ and peak fat yield of first three lactation were $0.458{\pm}0.01$, $0.490{\pm}0.01$ and $0.500{\pm}0.02kg$, respectively. The lifetime fat production was estimated as $502.31{\pm}45.90kg$. LTMP and LTFP had reasonably good additive genetic variance which could be exploited either through mass selection/combined with family or pedigree selection. FLMY, peak yields and LTMP had significant positive phenotypic correlation with FLFY and LTFP and the correlation at the genetic level were also higher and positive for these traits. Finally, peak week milk yield of first lactation (PMY1) was the earliest available trait having desirable and significant correlation at phenotypic and positive at genetic level with FLFY, PFY1 and PFY2, PFY3 and LTFP and selection for this trait will help in early evaluation of sires and dams and will increase genetic advancement per unit of time.

Evaluation of a New Fine-mapping Method Exploiting Linkage Disequilibrium: a Case Study Analysing a QTL with Major Effect on Milk Composition on Bovine Chromosome 14

  • Kim, JongJoo;Georges, Michel
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.9
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    • pp.1250-1256
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    • 2002
  • A novel fine-mapping method exploiting linkage disequilibrium (LD) was applied to better refine the quantitative trait loci (QTL) positions for milk production traits on bovine chromosome 14 in the pedigree comprising 22 paternal half-sib families of a Black-and-White Holstein-Friesian grand-daughter design in the Netherlands for a total of 1,034 sons. The chromosome map was constructed with the 31 genetic markers spanning 90 Kosambi cM with the average inter-marker distance of 3.5 cM. The linkage analyses, in which the effects of sire QTL alleles were assumed random and the random factor of the QTL allelic effects was incorporated into the Animal Model, found the QTL for milk, fat, and protein yield and fat and protein % with the Lod scores of 10.9, 2.3, 6.0, 25.4 and 3.2, respectively. The joint analyses including LD information by use of multi-marker haplotypes highly increased the evidence of the QTL (Lod scores were 25.1, 20.9, 11.0, 85.7 and 17.4 for the corresponding traits, respectively). The joint analyses including DGAT markers in the defined haplotypes again increased the QTL evidence and the most likely QTL positions for the five traits coincided with the position of the DGAT gene, supporting the hypothesis of the direct causal involvement of the DGAT gene. This study strongly indicates that the exploitation of LD information will allow additional gains of power and precision in finding and localising QTL of interest in livestock species, on the condition of high marker density around the QTL region.

Predicting the Accuracy of Breeding Values Using High Density Genome Scans

  • Lee, Deuk-Hwan;Vasco, Daniel A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.2
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    • pp.162-172
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    • 2011
  • In this paper, simulation was used to determine accuracies of genomic breeding values for polygenic traits associated with many thousands of markers obtained from high density genome scans. The statistical approach was based upon stochastically simulating a pedigree with a specified base population and a specified set of population parameters including the effective and noneffective marker distances and generation time. For this population, marker and quantitative trait locus (QTL) genotypes were generated using either a single linkage group or multiple linkage group model. Single nucleotide polymorphism (SNP) was simulated for an entire bovine genome (except for the sex chromosome, n = 29) including linkage and recombination. Individuals drawn from the simulated population with specified marker and QTL genotypes were randomly mated to establish appropriate levels of linkage disequilibrium for ten generations. Phenotype and genomic SNP data sets were obtained from individuals starting after two generations. Genetic prediction was accomplished by statistically modeling the genomic relationship matrix and standard BLUP methods. The effect of the number of linkage groups was also investigated to determine its influence on the accuracy of breeding values for genomic selection. When using high density scan data (0.08 cM marker distance), accuracies of breeding values on juveniles were obtained of 0.60 and 0.82, for a low heritable trait (0.10) and high heritable trait (0.50), respectively, in the single linkage group model. Estimates of 0.38 and 0.60 were obtained for the same cases in the multiple linkage group models. Unexpectedly, use of BLUP regression methods across many chromosomes was found to give rise to reduced accuracy in breeding value determination. The reasons for this remain a target for further research, but the role of Mendelian sampling may play a fundamental role in producing this effect.

Estimation of Effective Population Size in the Sapsaree: A Korean Native Dog (Canis familiaris)

  • Alam, M.;Han, K.I.;Lee, D.H.;Ha, J.H.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.8
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    • pp.1063-1072
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    • 2012
  • Effective population size ($N_e$) is an important measure to understand population structure and genetic variability in animal species. The objective of this study was to estimate $N_e$ in Sapsaree dogs using the information of rate of inbreeding and genomic data that were obtained from pedigree and the Illumina CanineSNP20 (20K) and CanineHD (170K) beadchips, respectively. Three SNP panels, i.e. Sap134 (20K), Sap60 (170K), and Sap183 (the combined panel from the 20K and 170K), were used to genotype 134, 60, and 183 animal samples, respectively. The $N_e$ estimates based on inbreeding rate ranged from 16 to 51 about five to 13 generations ago. With the use of SNP genotypes, two methods were applied for $N_e$ estimation, i.e. pair-wise $r^2$ values using a simple expectation of distance and $r^2$ values under a non-linear regression with respective distances assuming a finite population size. The average pair-wise $N_e$ estimates across generations using the pairs of SNPs that were located within 5 Mb in the Sap134, Sap60, and Sap183 panels, were 1,486, 1,025 and 1,293, respectively. Under the non-linear regression method, the average $N_e$ estimates were 1,601, 528, and 1,129 for the respective panels. Also, the point estimates of past $N_e$ at 5, 20, and 50 generations ago ranged between 64 to 75, 245 to 286, and 573 to 646, respectively, indicating a significant $N_e$ reduction in the last several generations. These results suggest a strong necessity for minimizing inbreeding through the application of genomic selection or other breeding strategies to increase $N_e$, so as to maintain genetic variation and to avoid future bottlenecks in the Sapsaree population.

Genetic Parameters and Responses in Growth and Body Composition Traits of Pigs Measured under Group Housing and Ad libitum Feeding from Lines Selected for Growth Rate on a Fixed Ration

  • Nguyen, Nguyen Hong;McPhee, C.P.
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.8
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    • pp.1075-1079
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    • 2005
  • The main objective of this study is to examine genetic changes in growth rate and carcass composition traits in group housed, ad libitum fed pigs, from lines of Large White divergently selected over four years for high and low post-weaning daily gain on a fixed but restricted ration. Genetic parameters for production and carcass traits were also estimated by using average information-restricted maximum likelihood applied to a multivariate individual animal model. All analyses were carried out on 1,728 records of group housed ad libitum fed pigs, and include a full pedigree of 5,324 animals. Estimates of heritability (standard errors in parentheses) were 0.11 (0.04) for lifetime daily liveweight gain (LDG), 0.13 (0.04) for daily carcass weight gain (CDG) and 0.28 (0.06) for carcass backfat (CFT). Genetic correlations between LDG and CDG were highly positive and between LDG and CFT negative, suggesting that selection for lifetime daily gain under commercial conditions of group housing with ad libitum feeding would result in favourable improvement in carcass traits. CFT showed negative genetic correlations with CDG. Correlated genetic responses evaluated as estimated breeding values (EBVs) were obtained from a multivariate animal model-best linear unbiased prediction analysis. After four years of divergent selection for 6 week post-weaning growth rate on restricted feeding, pigs performance tested on ad libitum feeding in groups exhibited changes in EBVs of 6.77 and -9.93 (g/d) for LDG, 4.25 and -7.08 (g/d) for CDG, and -1.42 and 1.55 (mm) for CFT, in the high and low lines, respectively. It is concluded that selection for growth rate on restricted feeding would significantly improve genetic performance and carcass composition of their descendants when group housed and ad libitum fed as is a common commercial practice.

Estimation of Genetic Parameters for Reproductive Traits between First and Later Parities in Pig

  • Oh, S.H.;Lee, D.H.;See, M.T.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.1
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    • pp.7-12
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    • 2006
  • The objective of this study was to estimate genetic parameters between first and later parities as different traits in reproductive traits of pigs using multiple trait animal model procedures. Data related to reproductive traits from a total of 2,371 individuals maintained at a farm were taken from the pedigree file. Sires and dams were consisted of Duroc, Landrace, and Yorkshire breeds, respectively. The first and later parity records were considered as different traits. Traits included in analyses were total pigs born (TB1), number of pigs born alive (NBA1), number of pigs weaned (NW1), and litter weaning weight (LWT1) in the first parity, and total pigs born (TB2), number of pigs born alive (NBA2), number of pigs weaned (NW2), litter weaning weight (LWT2) and interval between farrowing events (FTF) in later parities. Heritability estimates of TB1, NBA1, NW1 and LWT1 in the first parity were 0.27, 0.25, 0.16 and 0.20, respectively. For TB2, NBA2, NW2, LWT2 and FTF in later parities, heritabilities were estimated as 0.15, 0.15, 0.08, 0.11 and 0.07, respectively. Genetic correlations between sow reproductive traits in the first parity and in the second and later parity were estimated to be 0.89, 0.77, 0.58 and 0.66, respectively, between TB1 and TB2, NBA1 and NBA2, NW1 and NW2, and LWT1 and LWT2. While phenotypic correlations between TB1 and TB2, NBA1 and NBA2, NW1 and NW2, and LWT1 and LWT2 were estimated as 0.18, 0.15, 0.06 and 0.10, respectively. Genetic correlations between reproductive traits of first and later parities were not high indicating that reproductive traits for sows should be analyzed while considering the parities as different traits.

Factors Influencing Genetic Change for Milk Yield within Farms in Central Thailand

  • Sarakul, M.;Koonawootrittriron, S.;Elzo, M.A.;Suwanasopee, T.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.8
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    • pp.1031-1040
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    • 2011
  • The objective of this study was to characterize factors influencing genetic improvement of dairy cattle for milk production at farm level. Data were accumulated from 305-day milk yields and pedigree information from 1,921 first-lactation dairy cows that calved from 1990 to 2007 on 161 farms in Central Thailand. Variance components were estimated using average information restricted maximum likelihood procedures. Animal breeding values were predicted by an animal model that contained herd-year-season, calving age, and regression additive genetic group as fixed effects, and cow and residual as random effects. Estimated breeding values from cows that calved in a particular month were used to estimate genetic trends for each individual farm. Within-farm genetic trends (b, regression coefficient of farm milk production per month) were used to classify farms into 3 groups: i) farms with negative genetic trend (b<-0.5 kg/mo), ii) farms with no genetic trend (-0.5 kg/$mo{\leq}b{\leq}0.5$ kg/mo), and iii) farms with positive genetic trend (b>0.5 kg/mo). Questionnaires were used to gather information from individual farmers on educational background, herd characteristics, farm management, decision making practices, and opinion on dairy farming. Farmer's responses to the questionnaire were used to test the association between these factors and farm groups using Fisher's exact test. Estimated genetic trend for the complete population was $0.29{\pm}1.02$ kg/year for cows. At farm level, most farms (40%) had positive genetic trend ($0.63{\pm}4.67$ to $230.79{\pm}166.63$ kg/mo) followed by farms with negative genetic trend (35%; $-173.68{\pm}39.63$ to $-0.62{\pm}2.57$ kg/mo) and those with no genetic trend (25%; $-0.52{\pm}3.52$ to $0.55{\pm}2.68$ kg/mo). Except for educational background (p<0.05), all other factors were not significantly associated with farm group.

Estimation of environmental effects and genetic parameters of carcass traits on Chikso (Korean brindle cattle)

  • Park, Byoungho;Choi, Tae Jeong;Park, Mi Na;Oh, Sang-Hyon
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.4
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    • pp.525-530
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    • 2020
  • Objective: The purpose of this study was i) to identify the characteristics of carcass traits in Chikso by gender, region, age at slaughter, and coat color using the carcass data collected from the nationwide pedigree information and coat color investigation, and ii) to estimate genetic parameters for breed improvement. Methods: A linear model was used to analyze the environmental effects on the carcass traits and to estimate genetic parameters. Analysis of variance was performed using TYPE III sum of squares for the unbalanced data provided by the general linear model procedure. Variance components for genetic parameters was estimated using REMLF90 of the BLUPF90 family programs. Results: Phenotypic performance of carcass weight (CW), eye muscle area (EMA), and backfat thickness (BF) in Chikso were lower than those of Hanwoo. This is a natural outcome because Hanwoo have undergone significant efforts for improvement at the national level, a phenomenon not observed in Chikso. Another factor influencing the above outcome was the smaller population size of Chikso compared to that of Hanwoo's. The heritabilities of CW, EMA, BF, and marbling score in Chikso were estimated as 0.50, 0.37, 0.35, and 0.53, respectively, which were was higher than those of Hanwoo. Conclusion: Based on the genetic parameters that were estimated in this study, it is expected that the carcass traits will improve when the livestock research institutes at each province conduct small-scale performance tests and the semen is provided to farmers after selecting proven bulls using the state-of-art selection technique such as genomic selection.

Study on Prescription and Formation of SoAEuiBang and DongEuiBoGam (소아의방(小兒醫方)과 동의보감(東醫寶鑑)의 편제와 처방에 대한 연구)

  • Kim, Cho-Young;Chang, Gyu-Tae
    • The Journal of Pediatrics of Korean Medicine
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    • v.24 no.1
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    • pp.65-76
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    • 2010
  • Objectives In the later period of Choseon dynasty, korean pediatrics became a pivot part of medicine. SoAUiBang was the most important book in that era. DongEuiBoGam was the most widely read of all oriental medicine books and published in early days of the Choseon dynasty. Therefore, this comparative study on the prescription and formation of SoAUiBang and DongEuiBoGam could be a useful way to understand SoAUiBang's characteristics. Methods This study was based on SoAUiBang and DongEuiBoGam, two literatures of oriental medicine. Results 1. Formation of SoAUiBang had a similar aspect with that of DongEuiBoGam's and enlarged the area of pediatrics by featuring general medical books. However, its formation did not follow the DongEuiBoGam's, but had its unique formation. It tried to include all diseases of pediatrics in the system of DongEuiBoGam. Plus, smallpox and measles belonged to the epidemic diseases were excluded from the area of pediatrics. 2. Comparing SoAUiBang's prescription of some important diseases with DongEuiBoGam's, it was almost a prescription based on DongEuiBoGam's prescription. However, adjustment of herbs and dosages could not be found in any oriental medicine books including DongEuiBoGam. Conclusions SoAUiBang maintained the traditional Oriental medicine based on author's scholarly creativeness. In addition, it also inherited the lineage of medicine in Korea along with the pedigree of DongEuiBoGam. Therefore, SoAUiBang should be re-evaluated as a medicine book that opened a new field of pediatric and had great academic values.