• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.18-23
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• 2023

Conventional evaluation method for identifying the organic cause of short stature has a low detection rate. If an infant who is small for gestational age manifests postnatal growth deterioration, triangular face, relative macrocephaly, and protruding forehead, a genetic testing of IGF2, H19, GRB10, MEST, CDKN1, CUL7, OBSL1, and CCDC9 should be considered to determine the presence of Silver-Russell syndrome and 3-M syndrome. If a short patient with prenatal growth failure also exhibits postnatal growth failure, microcephaly, low IGF-1 levels, sensorineural deafness, or impaired intellectual development, genetic testing of IGF1 and IGFALS should be conducted. Furthermore, genetic testing of GH1, GHRHR, HESX1, SOX3, PROP1, POU1F1, and LHX3 should be considered if patients with isolated growth hormone deficiency have short stature below -3 standard deviation score, barely detectable serum growth hormone concentration, and other deficiencies of anterior pituitary hormone. In short patients with height SDS <-3 and high growth hormone levels, genetic testing should be considered to identify GHR mutations. Lastly, when severe short patients (height z score <-3) exhibit high levels of prolactin and recurrent pulmonary infection, genetic testing should be conducted to identify STAT5B mutations.

• The Korean Journal of Physiology and Pharmacology
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• 제17권6호
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• pp.479-484
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• 2013

Given the CYP3A4 and CYP3A5's impact on the efficacy of drugs, the genetic backgrounds of individuals and populations are regarded as an important factor to be considered in the prescription of personalized medicine. However, genetic studies with Korean population are relatively scarce compared to those with other populations. In this study, we aimed to identify CYP3A4/5 polymorphisms and compare the genotype distributions among five ethnicities. To identify CYP3A4/5 SNPs, we first performed direct sequencing with 288 DNA samples which consisted of 96 Koreans, 48 European-Americans, 48 African-Americans, 48 Han Chinese, and 48 Japanese. The direct sequencing identified 15 novel SNPs, as well as 42 known polymorphisms. We defined the genotype distributions, and compared the allele frequencies among five ethnicities. The results showed that minor allele frequencies of Korean population were similar with those of the Japanese and Han Chinese populations, whereas there were distinct differences from European-Americans or African-Americans. Among the pharmacogenetic markers, frequencies of $CYP3A4^*1B$ (rs2740574) and $CYP3A5^*3C$ (rs776742) in Asian groups were different from those in other populations. In addition, minor allele frequency of $CYP3A4^*18$ (rs28371759) was the highest in Korean population. Additional in silico analysis predicted that two novel non-synonymous SNPs in CYP3A5 (+27256C>T, P389S and +31546T>G, I488S) could alter protein structure. The frequency distributions of the identified polymorphisms in the present study may contribute to the expansion of pharmacogenetic knowledge.

• 한국식물생명공학회:학술대회논문집
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• 한국식물생명공학회 2002년도 춘계학술대회
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• pp.137-137
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• 2002

• Asian-Australasian Journal of Animal Sciences
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• 제6권4호
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• pp.497-507
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• 1993

Four truncation selection schemes (SSs) were framed to predict and compare the age structures and genetic responses under the influence of various factor employing the scheme-specific algorithms. Two paths of selection, sires (bulls' sires) and dams (bulls' dams) to breed young bulls were considered. Among variable factors, four levels (0.3, 0.5, 0.7, 0.9) of precision of evaluation, five levels (0.0, 0.05, 0.10, 0.15, 0.20 genetic standard deviation) of genetic differences among age classes and 4 levels of proportions selected (for bulls' sire, 0.05, 0.10, 0.125, 0.25, and for bulls' dams 0.02, 0.04, 0.05, and 0.10) contemplated on both paths of selection. The number of age classes for bulls' dams and bulls' sires were 4 or 8 and 2 or 4, respectively. The stayability across age classes for bulls' dams was assumed to be 0.80 or 0.60. The candidates for selection for bulls' sires were equally distributed (0.5 or 0.25) across the age classes. The SS1 (selection on same proportions as candidates' distribution) revealed longest generation lengths and lowest yearly genetic responses. The average ages were youngest and yearly genetic responses were highest in SS4 (selection at each age-specific truncation point with the same average genetic superiority of selected parents across the ages) and followed by SS3 (selection at each agespecific truncation point with same predicted genetic values) and SS2 (selection at common truncation point on phenotypic values) in a population with overlapping generations. The results revealed the importance of choosing suitable selection scheme to acquire maximum yearly genetic responses especially when the genetic differences among age classes are large and the precision of evaluation is relatively low.

• 전자공학회논문지S
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• 제34S권5호
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• pp.52-65
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• 1997

For the degradation of severe noise and ill-conditioned blur the optimization function has the solution spaces which have many local optima around global solution. General restoration methods such as inverse filtering or gradient methods are mainly dependent on the properties of degradation model and tend to be isolated into a local optima because their convergences are determined in the convex space. Hence we introduce genetic algorithm as a searching method which will search solutions beyond the convex spaces including local solutins. In this paper we introudce improved evaluation square error) and fitness value for gray scaled images. Finally we also proposed the local fine tunign of window size and visit number for delicate searching mechanism in the vicinity of th global solution. Through the experiental results we verified the effectiveness of the proposed genetic operators and evaluation function on noise reduction over the conventional ones, as well as the improved performance of local fine tuning.

• Asian-Australasian Journal of Animal Sciences
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• 제20권1호
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• pp.25-30
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• 2007

The capability of microsatellite markers for individual identification and their potential for breed assignment of individuals was evaluated in two Indian horse breeds. The strength of these individual assignment methods was also evaluated by increasing the number of loci in increments of five. The probability of identity of two random horses from the two breeds at all twenty five studied loci was as low as $1.08{\times}10^{-32}$ showing their suitability to distinguish between individual horses and their products. In the phylogenetic approach for individual assignment using Nei's genetic distances, 10.81% of horses associated with breed other than the major cluster of the source breed horses when all twenty five microsatellite loci were implemented. Similar results were obtained when the maximum likelihood approach for individual assignment was used. Based on these results it is proposed that, although microsatellite markers may prove very useful for individual identification, their utility for breed assignment of horses needs further evaluation.

• Asian-Australasian Journal of Animal Sciences
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• 제28권10호
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• pp.1407-1418
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• 2015

A total of 32,817 test-day milk yield (TDMY) records of the first lactation of 4,056 Girolando cows daughters of 276 sires, collected from 118 herds between 2000 and 2011 were utilized to estimate the genetic parameters for TDMY via random regression models (RRM) using Legendre's polynomial functions whose orders varied from 3 to 5. In addition, nine measures of persistency in milk yield ($PS_i$) and the genetic trend of 305-day milk yield (305MY) were evaluated. The fit quality criteria used indicated RRM employing the Legendre's polynomial of orders 3 and 5 for fitting the genetic additive and permanent environment effects, respectively, as the best model. The heritability and genetic correlation for TDMY throughout the lactation, obtained with the best model, varied from 0.18 to 0.23 and from -0.03 to 1.00, respectively. The heritability and genetic correlation for persistency and 305MY varied from 0.10 to 0.33 and from -0.98 to 1.00, respectively. The use of $PS_7$ would be the most suitable option for the evaluation of Girolando cattle. The estimated breeding values for 305MY of sires and cows showed significant and positive genetic trends. Thus, the use of selection indices would be indicated in the genetic evaluation of Girolando cattle for both traits.

• Animal Bioscience
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• 제36권7호
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• pp.1003-1009
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• 2023

Objective: The objective was to compare (pedigree-based) best linear unbiased prediction (BLUP), genomic BLUP (GBLUP), and single-step GBLUP (ssGBLUP) methods for genomic evaluation of growth traits in a Mexican Braunvieh cattle population. Methods: Birth (BW), weaning (WW), and yearling weight (YW) data of a Mexican Braunvieh cattle population were analyzed with BLUP, GBLUP, and ssGBLUP methods. These methods are differentiated by the additive genetic relationship matrix included in the model and the animals under evaluation. The predictive ability of the model was evaluated using random partitions of the data in training and testing sets, consistently predicting about 20% of genotyped animals on all occasions. For each partition, the Pearson correlation coefficient between adjusted phenotypes for fixed effects and non-genetic random effects and the estimated breeding values (EBV) were computed. Results: The random contemporary group (CG) effect explained about 50%, 45%, and 35% of the phenotypic variance in BW, WW, and YW, respectively. For the three methods, the CG effect explained the highest proportion of the phenotypic variances (except for YW-GBLUP). The heritability estimate obtained with GBLUP was the lowest for BW, while the highest heritability was obtained with BLUP. For WW, the highest heritability estimate was obtained with BLUP, the estimates obtained with GBLUP and ssGBLUP were similar. For YW, the heritability estimates obtained with GBLUP and BLUP were similar, and the lowest heritability was obtained with ssGBLUP. Pearson correlation coefficients between adjusted phenotypes for non-genetic effects and EBVs were the highest for BLUP, followed by ssBLUP and GBLUP. Conclusion: The successful implementation of genetic evaluations that include genotyped and non-genotyped animals in our study indicate a promising method for use in genetic improvement programs of Braunvieh cattle. Our findings showed that simultaneous evaluation of genotyped and non-genotyped animals improved prediction accuracy for growth traits even with a limited number of genotyped animals.

• Asian-Australasian Journal of Animal Sciences
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• 제15권5호
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• pp.695-698
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• 2002

Performance data (from 1985 to 2000) of Jersey cattle imported from USA and maintained at Islamabad, Pakistan were evaluated. The purpose of this study was to assess the genetic merit of Jersey breed under Pakistani environment for further propagation. Cows with at least two calvings were considered for this study; records on 50 daughter-dam pairs were available on production and reproduction performance traits for genetic evaluation. The average age at first calving in parents was $25.2{\pm}2.4$ m as compared to $23.9{\pm}6.6$ m in progeny. Calving interval in parents and progeny was $416{\pm}74$ and $446{\pm}105$ d; lactation length $301{\pm}51$ and $325{\pm}73$ d; lactation milk yield $2,908{\pm}669$ and $2,707{\pm}903$ lit respectively. All these differences were found to be statistically significant except lactation length. The correlations between age at first calving and total lactation milk was -0.25, between calving interval and total lactation milk yield was 0.14, and between lactation length and total lactation milk yield was 0.79. The $h^2$ of these traits were low indicating important role of environment in expressing the genetic potential of animals. The S.E of $h^2$ of all the traits was high due to large variation in data.

• Asian-Australasian Journal of Animal Sciences
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• 제11권4호
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• pp.441-444
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• 1998

The negative direct-maternal genetic correlation $(r_{dm})$ for weaning weight is inflated when data are analyzed with model ignoring sire-by-year interactions (SY). An analytical study investigating the consequences of ignoring SY was undertaken. The inflation of negative correlation could be due to a functional relationship of design matrices for additive direct and maternal genetic effects to that for sire effects within which SY effects were nested. It was proven that the maternal genetic variance was inflated by the amount of reduction for sire variance; the direct genetic variance was inflated by four times the change for maternal genetic variance; and the direct-maternal genetic covariance was deflated by twice the change for maternal genetic variance. The findings were agreed to the results in previous studies.