• Title/Summary/Keyword: pedigree

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A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia

  • Lee, Jeongeun;Rhee, Minhee;Min, Taek Ki;Bang, Hae In;Jang, Mi-Ae;Kang, Eun-Suk;Kim, Hee-Jin;Yang, Hyeon-Jong;Pyu, Bok Yang
    • 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.

Estimation of Genetic Parameters for Milk Production Traits Using a Random Regression Test-day Model in Holstein Cows in Korea

  • Kim, Byeong-Woo;Lee, Deukhwan;Jeon, Jin-Tae;Lee, Jung-Gyu
    • 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.

Genetic correlations between behavioural responses and performance traits in laying hens

  • Rozempolska-Rucinska, Iwona;Zieba, Grzegorz;Kibala, Lucyna;Prochniak, Tomasz;Lukaszewicz, Marek
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.12
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    • pp.1674-1678
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    • 2017
  • Objective: The aim of the study was to evaluate genetic correlations between the behavioural profile and performance in laying hens as an indirect answer to the question whether the observed behavioural responses are associated with increased levels of stress in these birds. Methods: The assessment of birds' temperament was carried out using the novel objects test. The behavioural test was conducted in two successive generations comprising 9,483 Rhode Island White (RIW) birds (approx. 4,700 individuals per generation) and 4,326 Rhode Island Red (RIR) birds (approx. 2,100 individuals per generation). Based on the recorded responses, the birds were divided into two groups: a fearful profile (1,418 RIW hens and 580 RIR hens) and a brave/curious profile (8,065 RIW hens and 3,746 RIR hens). The birds were subjected to standard assessment of their performance traits, including SM, age at sexual maturity; ST, shell thickness; SG, egg specific gravity; EW, mean egg weight; IP, initial egg production; and HC, number of hatched chicks. The pedigree was three generations deep (including two behaviourrecorded generations). Estimation of the (co)variance components was performed with the Gibbs sampling method, which accounts for the discrete character of the behavioural profile denotation. Results: The analyses revealed negative correlations between the performance traits of the laying hens and the behavioural profile defined as fearful. In the group of fearful RIW birds, delayed sexual maturation (0.22) as well as a decrease in the initial egg production (-0.30), egg weight (-0.54), egg specific gravity (-0.331), shell thickness (-0.11), and the number of hatched chicks (-0.24) could be expected. These correlations were less pronounced in the RIR breed, in which the fearful birds exhibited a decline in hatchability (-0.37), egg specific gravity (-0.11), and the number of hatched chicks (-0.18). There were no correlations in the case of the other traits or they were positive but exhibited a substantial standard error, as for the egg weight. Conclusion: To sum up the results obtained, it can be noted that behavioural responses indicating fearfulness, i.e. escape, avoidance, and approach-avoidance may reflect negative emotions experienced by birds. The negative correlations with performance in the group of fearful hens may indirectly indicate a high level of stress in these birds, especially in the white-feathered birds, where stronger performance-fearfulness correlations were found. Fearful birds should be eliminated from breeding by inclusion of the behavioural profile in the selection criterion in the case of laying hens.

Study on Traditional Multicolor, Dancheong in awareness by Dancheongjang (단청장(丹靑匠)이 인식하는 전통 단청 색상에 관한 조사 연구)

  • Jeong, Hye Young;Park, Ju Hyun;Go, In Hee;Kang, Yeong Seok
    • 보존과학연구
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    • s.37
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    • pp.27-41
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    • 2016
  • This study surveyed color awareness and color systems according to pedigree(Ilseob, Woljoo, Hyegak, Manbong ect.) targeting Dancheongjang (craftsman) who has inherited Dancheong (traditional multicolor). From the survey of color awareness, standardized color system of 'traditional color' awareness by Dancheongjang is 'the color inherited by the master' and it was identified that there is the standardized color system in awareness and its standard is either same or similar to traditional Dancheong. Also, according to each period, colors of Dancheong have been changed, it was thought that change in color materials and preference had went with times. From eleven main colors of Dancheong, chromaticity materials which were preferred by Dancheongjang were analyzed by the faction of Dancheongjang and colors and it resulted in a variety of color ranges over all. In the case of Yangnok, Noerok, Juhong it showed a high deviation with a wide color range while there was a low deviation with a narrow color range in Hayeop, Daja, Seokganju. Through this study it was difficult to identify clear correlations and tendencies of color system by the faction of Dancheongjangs. This is judged to be a reflection of the subjective artistry of the members.

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Sire-maternal Grandsire Model and Sire Model in Estimation of Genetic Parameters for Average Daily Gain and Carcass Traits of Japanese Black Cattle

  • Kim, Jong-Bok;Lee, Chaeyoung;Tsuyuki, Tsutomu;Shimogiri, Takeshi;Okamoto, Shin;Maeda, Yoshizane
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.12
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    • pp.1678-1684
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    • 2006
  • The objectives of this study were to estimate genetic parameters and sire breeding values for average daily gain (ADG) and carcass traits using sire-maternal grandsire model with REML approach, sire model with REML approach, sire model without relationships among sires and with REML and ANOVA approach, and to investigate advantages and disadvantages of these methods. Data were collected from 42,325 Japanese Black steers and heifers finished and slaughtered from 1991 to 2004. Traits analyzed in this study were average daily gain (ADG) during the fattening period, live weight at slaughter (LW), cold carcass weight (CW), estimated lean yield percentage (LYE), longissimus muscle area (LMA), subcutaneous fat thickness (SFT), rib thickness (RT), and marbling score (BMS). Bivariate analyses were also performed to obtain genetic and phenotypic correlation coefficients among traits. Estimated breeding values were obtained from each model, and simple and rank correlations among breeding values from each model were calculated. Estimates of heritability using the four models ranged from 0.25 to 0.31 in ADG, from 0.21 to 0.24 in LW, from 0.23 to 0.27 in CW, from 0.10 to 0.17 in DP, from 0.40 to 0.42 in LYE, from 0.19 to 0.31 in LMA, from 0.31 to 0.34 in SFT, from 0.26 to 0.33 in RT, and from 0.18 to 0.44 in BMS. The differences in heritability estimates using the four models seemed to be feasible in ADG, CW, DP, LMA, RT, and BMS. Genetic correlation coefficients of ADG with CW, SFT, RT and BMS were moderate to high and positive while the genetic correlation coefficients between ADG and LYE was low and negative. Correlation coefficients of BMS with SFT were negligible for both genetic and phenotypic correlations. The correlations of estimates evaluated from sire models with those from sire-maternal grandsire model were not large enough to convincing that breeding values using a sire model were corresponding to those using a sire-maternal grand sire model. If information of maternal grand sires are not available, the sire model with incomplete pedigree information included only sire of sire (Model 2) is optimal among the sire models evaluated in this study.

Paternity Diagnosis using The Multiplex PCR with Microsatellite Markers in Dogs

  • Kim, Seung-Chang;Jang, Hong-Chul;Kim, Lee-Kyung;Lim, Da-Jeong;Lee, Seung-Hwan;Cho, Yong-Min;Kim, Tae-Hun;Seong, Hwan-Hoo;Oh, Sung-Jong;Choi, Bong-Hwan
    • Reproductive and Developmental Biology
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    • v.35 no.4
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    • pp.399-405
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    • 2011
  • The number of abandoned dogs is increasing with the worsening of the economy and the rising of feed value. It was becoming a serious social problem because of the disease transmission and destruction of natural ecosystems by abandoned dogs been wild animal. In order to solve these problems, companion dogs necessary to secure its own genetic information and to establish the systematic tracking system. Using multiplex-PCR method with 27 microsatellite marker (MS marker) divided 3 set, various alleles occurring to 6 dog breed (Labrador Retriever, German Shepherd, English Springer Spaniel, Belgian Malinois, Jindo Dog, PoongSan Dog) make use of markers to determine allele frequency and heterozygosity. MS marker FH2834 and FH2790 have only two allele and most were found in 13 alleles at FH3381 and FH3399. Average heterozygosity of MS marker is 0.534 and especially, heterozygosity represented the highest value of 0.765 at FH3381. So, it was recognized appropriate allele frequency for individual identification and paternity diagnosis in companion dogs. Using multiplex-PCR method with MS marker, various alleles occurring to dog breed make use of markers to deter mine individual identification and paternity diagnosis, traits associated biomarkers and breed-specific marker for faster, more accurate and ways to reduce the analysis cost. Based on this result, a scientific basis was established to the existing pedigree data by applying genetics additionally. Animal registration system is expected to be conducted nationwide in future. The method expects to very useful this system.

Estimation of Genetic Parameter for Carcass Traits According to MTDFREML and Gibbs Sampling in Hanwoo(Korean Cattle) (MTDFREML 방법과 Gibbs Sampling 방법에 의한 한우의 육질형질 유전모수 추정)

  • 김내수;이중재;주종철
    • 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.

Seroprevalence of FeLV and FIV Infections in Domestic Cats in Korea (한국에서 고양이의 FeLV와 FIV 감염 유병율)

  • Park Soo-won;Lee Doo-hyung;Ko Young-hwan;Hong Ji-hyun;Lee Chang-woo
    • Journal of Veterinary Clinics
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    • v.22 no.1
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    • pp.1-5
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    • 2005
  • Seroprevalence of feline leukemia virus (FeLV) and feline immunodeficiency virus (FIV) infections were surveyed in 875 domestic cats derived from 4 major cities and 4 provinces in Korea. Of those tested, 715 were healthy and 160 were sick. FeLV and FIV were tested with AGEN/sup ⓡ/ FeLV-FIV, a commercial combo test kit. Ten out of 875 cats (1.1 %) were seropositive for FeLV and none out of 875 cats (0%) was positive for FIV, respectively. The positive rates for FeLV were 3.8% in sick cats and 0.6% in healthy cats. The cats at the age of more than 1 year showed higher incidence rates than the younger ones. There were no significant relationships either with the environment or with the sex. The prevalence of seropositive FeLV was 0.7% in mixed cats and 1.6% in pedigree cats. With respect to the regional prevalence of the FeLV, the highest seroprevalence (9.5%) was found in Gyeongsang province.

Construction of DNA Profile Data Base of Strawberry Cultivars Using Microsatellite Markers (Microsatellite 마커를 이용한 딸기 품종의 DNA Profile Database 구축)

  • Hong, Jee-Hwa;Choi, Keun-Jin;Kwon, Yong-Sham
    • Horticultural Science & Technology
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    • v.32 no.6
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    • pp.853-863
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    • 2014
  • This study was carried out to construct a DNA profile database of 100 strawberry cultivars using microsatellite markers. Two hundred seventy four microsatellite primer pairs were screened with a set of 21 strawberry cultivars with different morphological traits. Twenty five primer pairs were selected because they produced reliable and reproducible fingerprints. These primer pairs were used to develop DNA profiles of 100 strawberry cultivars. Three to thirteen alleles were detected by each marker with an average of 7.50. The average polymorphism information content varied from 0.331 to 841 (average 0.706). Cluster analysis showed that the 100 cultivars were divided into 7 major groups reflecting geographic origin and pedigree information. Moreover, most of the cultivars could be discriminated by marker genotypes. These markers will be useful as a tool for the protection of plant breeders' intellectual property rights in addition to providing the means to intervene seed disputes relating to variety authentication.

Breeding of Black Tomato 'Hei-G' Suitable for Protected Cultivation (시설재배용 흑색 토마토 '헤이-G' 육성)

  • Seo, Jong-Bun;Shin, Gil-Ho;Lee, Ya-Seong;Jang, Mi-Hyang;Son, Dong-Mo;Yoon, Bong-Ki;Lee, Jin-Woo;Choi, Kyong-Ju
    • Horticultural Science & Technology
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    • v.32 no.6
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    • pp.917-921
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    • 2014
  • 'Hei-G' is a new tomato cultivar originating from the cross of two inbred lines, the maternal plant TKUI-3 separated from 'Kame' in 2007, and the paternal plant AL-1 developed by pedigree breeding. The new cultivar was registered as 'Hei-G' named 'JTB026 (Jeonnam-2)' based on characteristics and yield trials carried out in the spring of 3 years, from 2010 to 2012. 'Hei-G' is an indeterminate type with strong plant vigor. The fruit is round and the ripening fruit is blackish red. The average fruit weight of 'Hei-G' is about 43.4 g, and its marketable yield is $4,944kg{\cdot}10a^{-1}$. The lycopene content of 'Hei-G' ($11.8mg{\cdot}100g^{-1}$) is higher than that of other tomatoes (e.g., cv. Rapido, 3.1 mg). In addition, 'Hei-G' is suitable for environment-friendly protected cultivation because of its resistance to powdery mildew.