• Journal of Animal Science and Technology
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• v.49 no.4
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• pp.437-442
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• 2007

The melanocortin-4 receptor(MC4R) is virtually expressed in all brain regions and plays an important role in energy homeostasis in mammals. MC4R has been intensively studied as a trait gene controlling economically important traits, such as growth and feed conversion, etc. Six hundreds and sixty Duroc pigs were genotyped for the MC4R locus and analyzed their relationships with breeding values for average daily gain(ADG), backfat thickness(BF), days to 90kg(D90) and feed conversion(FC). The estimated genotype frequencies for the all Duroc pigs were: 30.8%, 45.2%, 24.1% for AA, AB and BB genotypes, respectively. The mutant A allele was significantly associated with ADG, D90 and BF whereas no significant relationship was found with FC. The change of gene frequencies by generation was shown in both selected and culled groups. These results indicate that the MC4R polymorphism could be integrated in the present selection program to realize a marker-assisted selection for the growth traits of the Duroc population.

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.12
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• pp.1801-1808
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• 2019

Objective: As an iconic symbol of Qinghai-Tibetan Plateau and of high altitude, yak are subjected to hypoxic conditions that challenge aerobic metabolism. Matrix metalloproteinases-3 (MMP3) is assumed to be a key target gene of hypoxia-inducible factor-$1{\alpha}$ that function as a master regulator of the cellular response to hypoxia. Therefore, the aim of this investigation was to identify the DNA polymorphism of MMP3 gene in domestic yak and to explore its possible association with high-altitude adaptation. Methods: The single-nucleotide polymorphisms (SNPs) genotyping and mutations scanning at the MMP3 locus were conducted in total of 344 individuals from four domestic Chinese yak breeds resident at different altitudes on the Qinghai-Tibetan Plateau, using high-resolution melting analysis and DNA sequencing techniques. Results: The novel of SNPs rs2381 $A{\rightarrow}G$ and rs4331 $C{\rightarrow}G$ were identified in intron V and intron VII of MMP3, respectively. Frequencies of the GG genotype and the G allele of SNP rs2381 $A{\rightarrow}G$ observed in high-altitude Pali yak were significantly higher than that of the other yak breeds resident at middle or low altitude (p<0.01). No significant difference was mapped for SNP rs4331 $C{\rightarrow}G$ in the yak population (p>0.05). Haplotype GC was the dominant among the 4 yak breeds, and Pearson correlation analysis showed that the frequencies of GC was significantly lower in Ganan (GN), Datong (DT), and Tianzhu white yaks (TZ) compared with Pali (PL) yak. The two SNPs were in moderate linkage disequilibrium in high-altitude yaks (PL) but not in middle-altitude (GN, DT) and low-altitude (TZ) yaks. Conclusion: These results indicate that MMP3 may have been subjected to positive selection in yak, especially that the SNP rs2381 $A{\rightarrow}G$ mutation and GC haplotypes might contribute to adaptation for yak in high-altitude environments.

• Reproductive and Developmental Biology
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• v.35 no.3
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• pp.247-250
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• 2011

The objective of this study was to find out candidate genes associated with litter size trait in pigs of inbred Large Yorkshire and Landrace populations. 86 sows were screened for candidate genotypes along with litter size data recordings. Association of litter size with genotypes of candidate genes were investigated to verify the usefulness of each gene's genotypes as markers for the trait. For the lines of Large Yorkshire, PRLR3 and RBP4 genes were genotyped. Frequency distribution of PRLR3 with genotypes AA, AB and BB were each 0.14, 0.44 and 0.42. And the average litter size by PRLR3 genotypes were 8.83, 10.81 and 10.70 piglets per litter, the average estimated breeding values of which were 0.243, 0.332, 0.365, respectively for AA, AB and BB genotypes. Genotypic frequencies of RBP4 by AA, AB and BB genotypes were 0.10, 0.44 and 0.46. The average litter size by genotypes of RBP4 were 10.40, 10.57 and 10.35 piglets per litter and their corresponding average estimated breeding values were 0.451, 0.353 and 0.261, respectively for genotypes AA, AB and BB. Significance in differences among genotypes were not observed, but B allele of RBP4 seems to be associated with litter size. In Landrace lines, frequencies of RBP4 genotypes, AA, AB and BB were 0.29, 0.55 and 0.16. And the average litter size of these genotypes were 10.50, 11.08 and 11.00 piglets per litter. The corresponding averages of estimated breeding values of each genotypes were 0.172, 0.135 and 0.104. In Landrace lines, allele A was more likely to be associated with litter size, even if differences among average litter size were not significant. We conclude that genotyping of two candidate genes is a helpful tool to identify genetic potentials of litter size in pigs.

• Journal of Life Science
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• v.19 no.3
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• pp.299-304
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• 2009

Interleukin 27 (IL-27) was discovered as a heterodimeric cytokine of the IL-12 family, and is composed of two subunits - Epstein-Barr virus induced gene 3 (EBI3) and p28. It acts as a versatile cytokine in the early regulation of Th1 initiation and in the negative regulation of the Th2 factor GATA binding protein 3 (GATA-3). This cytokine is mediated by the IL-27 receptor (WSX-1), which is highly expressed on $CD4^+$ T lymphocytes and NK cells. We previously identified four polymorphisms in the human IL-27p28 gene and suggested that the polymorphism of IL-27p28 is associated with susceptibility to asthma. To determine whether these IL-27p28 SNPs are associated with susceptibility to allergic rhinitis, the genotype and allele frequencies of IL-27p28 SNPs were analyzed between allergic rhinitis patients and healthy controls. Although the genotype and allele frequencies of IL-27p28 SNPs in allergic rhinitis patients were not significantly different from those of the control group, there was a suggestive difference (P=0.037) between these groups in total serum IgE levels in the g.2905T>G SNP of the IL-27p28 gene. Our result implies that the g.2905T>G SNP of the IL-27p28 gene might have an affect on IgE production in allergic rhinitis patients.

• Food Science of Animal Resources
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• v.29 no.1
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• pp.108-113
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• 2009

Apolipoprotein E (APOE) is a plasma lipoprotein in mammals and plays an important role in the transport and metabolism of lipids such as phospholipids and triglycerides. Therefore, the APOE gene could be a candidate gene controlling lipid metabolism in beef cattle. This study was performed to identify single nucleotide polymorphisms (SNP) in the APOE gene and to investigate the effects of SNP genotype on the carcass traits such as meat quantity and quality in Korean cattle. For PCR amplification, pooled DNA made from unrelated 60 individuals was prepared and primer pairs were designed based on the cDNA sequence of exon 4 region of the bovine APOE gene. A SNP was identified at position 2034 (T/C substitution) of the exon 4 region in the APOE gene. PCR-RFLP procedure with restriction enzyme ACC I was developed for determining the SNP genotype for each of a total of 309 animals with pedigree information and performance records through the national progeny testing program. The frequencies of the genotypes TT, TC and CC were 10.9, 46.9 and 42.2%. Gene frequencies were 0.344 for T allele and 0.656 for C allele. The g.2034T>C SNP genotype showed a significant effect (p<0.05) on dressing percentage and meat color, respectively. Animals with the TT genotype showed higher dressing percentage than those with the CC genotype, and TT genotype had desirable meat color compared with CC genotype. These results suggest that the g.2034T>C SNP genotype of the APOE gene may be useful as a DNA marker for meat quantity index and dressing percentage in Korean cattle.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.52-59
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• 2003

Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

• Journal of Animal Science and Technology
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• v.45 no.5
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• pp.703-710
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• 2003

The purpose of this study was to detect association between genetic variation and economic trait in the porcine heart type fatty acid-binding protein gene as a candidate gene for the traits related with growth and meat quality in pigs. The H-FABP is a 15-kDa protein expressed in several tissues with high demand for fat metabolism such as cardiac and skeletal muscle and lactating mammary gland. H-FABP is small intracellular protein involved in fatty acid transport from the plasma membrane to the site of $\beta$-oxidation and/or triacylglycerol or phospholipid synthesis. In this study, H-FABP PCR-RFLP was performed in F$_2$ population composed of 214 individuals from an intercross between Korean Native Boars and Landrace sows. PCR products from two primer sets within H-FABP gene were amplified in 850bp and 700bp. Digestion of PCR products with the restriction digestion enzymes HaeⅢ and HinfⅠ, revealed fragment length polymorphisms(RFLPs). The genotype frequencies from H-FABP/HaeⅢ was .29 for genotype DD, .53 for genotype Dd, and .15 for genotype dd, respectively. The genotype frequencies of HH, Hh, and hh from H-FABP/HinfⅠ was .38, .41 and .20, respectively, in the population. Relationships between their genotypes and economic traits were estimated. In H-FABP/HaeⅢ locus, there were specific genotypes(Dd and dd) associated with economic traits such as body weights at 3, 5, 12, and 30 week of age (p〈.05 to .001). The ‘d’ allele was associated with gaining of body weight. In H-FABP/HinfⅠ locus, Genotypes of HH and Hh associated with growth traits such as body weights at 5, 12, and 30 week of age (p〈.05 or p〈.001) and back fat thickness, body fat including abdominal and trimmed fat (p〈.001) and intramuscular fat(p〈.05) The ‘H’ allele was positively associated with gaining of body weight and fatness deposition. In conclusion, a significant association of the H-FABP gene from its genetic variation was found on body weight, intramuscular fat and backfat thickness.

• Journal of Life Science
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• v.21 no.3
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• pp.412-416
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• 2011

Taste sensation plays a crucial role in selecting and ingesting foods with different qualities which convey information about their nutrient content and/or safety. Sweetness is one of the five modalities in humans and serves as an energy resource for metabolism. There are reports on allelic polymorphisms which influence perception of sweetness in mice and humans. Since the influence of genetic factors on taste disorder has not been studied, we investigated the association of genetic polymorphisms in TAS1R3 and guanine nucleotide binding protein, alpha transducing 3 (GNAT3) genes and taste disorder. A total of 150 individuals composed of 50 patients with taste disorder and 100 healthy controls were recruited for the study and PCR-mediated directing sequencing method was used to genotype for two different single nucleotide polymorphisms (SNPs) - rs307355 (T>C) and rs35744813 (T>C) in the TAS1R3 gene, and rs7792845 (T>C) and rs1524600 (C>T) in the the GNAT3 gene. The allele and genotype frequencies of rs307355 and rs35744813 in the TAS1R3 gene showed a significant association between patients with taste disorder (p=0.022 and p=0.013 in both of SNPs, respectively). In addition, the frequency of T-T haplotype in the TAS1R3 gene was higher in taste disorder cases than in the controls (OR, 1.93: 95%. CI, 1.09-3.39, p=0.022). In the GNAT3, the genotype frequency of rs7792845 in the patients was also different from the controls (p=0.048), but allele frequency was not significantly associated in either group. Our result provides the frequencies of SNPs and haplotypes of the TAS1R3 and GNAT3 genes for the fundamental information of nutrigenetics in perception of the taste of sweetness in the Korean population. Also, the study suggests that the allelic polymorphisms of TAS1R3 and GNAT3 genes may be useful as a molecular marker for evaluating patients with taste disorder. Further studies with large samples are required to clarify our observation.

• The Journal of Internal Korean Medicine
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• v.36 no.4
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• pp.547-561
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• 2015

Objectives In this study, we divided Korean asthma patients into excess syndrome or deficiency syndrome groups according to clinical phenotype. Genetic analysis was conducted to investigate the association of exonic SNPs in the CD46 gene polymorphism with the clinical phenotype based on the differentiation syndrome of the bronchial asthma patients.Methods There were 95 healthy patients (control group) and 53 asthma patients. (The deficiency syndrome group included 24 and the excess syndrome group 29). We searched the exonic areas of the CD46 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. We finally selected two SNPs: rs138843816, Ser13Phe and rs7144, 3’-UTR. Hardy-Weinberg equilibrium was calculated using SNPStats.Results There were significant differences in the codominant 1 model and the dominant model between the healthy group and the asthma group. There were significant differences between deficiency syndrome group and the excess syndrome group in the genotype frequencies and in the codominant 1 model, the dominant model, and the log-additive model. The allele frequency of rs7144C showed a significant difference between the deficiency syndrome group and the excess syndrome group. Two-SNP haplotype analysis showed a significant difference in frequency in the deficiency syndrome group and in the excess syndrome group. There were significant differences between the healthy group and the excess syndrome group in the codominant 1 model, the dominant model, and the log-additive model. The frequency of the rs7144 C allele exhibited a significant difference in the demonstration. SNP haplotype analysis between the healthy group and the excess syndrome group showed a significant difference in the frequency of the CT haplotype and the CC haplotype.Conclusions The results indicate that two CD46 SNPs (rs138843816, Ser13Phe and rs7144, 3′–UTR) might be associated with the symptomatic excess syndrome in Korean asthma patients.

• Journal of Animal Science and Technology
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• v.55 no.3
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• pp.165-171
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• 2013

Genomic relationship matrix (GRM) was constructed using whole genome SNP markers of swine and genomic breeding value was estimated by substitution of the numerator relationship matrix (NRM) based on pedigree information to GRM. Genotypes of 40,706 SNP markers from 448 pure Landrace pigs were used in this study and five kinds of GRM construction methods, G05, GMF, GOF, $GOF^*$ and GN, were compared with each other and with NRM. Coefficients of GOF considering each of observed allele frequencies showed the lowest deviation with coefficients of NRM and as coefficients of GMF considering the average minor allele frequency showed huge deviation from coefficients of NRM, movement of mean was expected by methods of allele frequency consideration. All GRM construction methods, except for $GOF^*$, showed normally distributed Mendelian sampling. As the result of breeding value (BV) estimation for days to 90 kg (D90KG) and average back-fat thickness (ABF) using NRM and GRM, correlation between BV of NRM and GRM was the highest by GOF and as genetic variance was overestimated by $GOF^*$, it was confirmed that scale of GRM is closely related with estimation of genetic variance. With the same amount of phenotype information, accuracy of BV based on genomic information was higher than BV based on pedigree information and these symptoms were more obvious for ABF then D90KG. Genetic evaluation of animal using relationship matrix by genomic information could be useful when there is lack of phenotype or relationship and prediction of BV for young animals without phenotype.