• Journal of Periodontal and Implant Science
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• v.35 no.2
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• pp.299-310
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• 2005

The severe form of chronic periodontitis(CP) has been reported to be strongly associated with the presence of allele 2 of composite IL-1B(+3954) and IL-1A(+4845) genetic polymorphisms(genotype positive). However, other studies have reported conflicting findings. These might have resulted from differences in ethnic background and disease entities. The aim of this study was to determine the distribution of IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN(VNTR) genetic polymorphisms in children as a future Korean population. The study population consisted of 92 children from the Dept. of Pediatric Dentistry, Chonnam National University Hospital. Genomic DNA was obtained from buccal swab. The IL-1A(+4845), IL-1B(+3954), and IL-1B(-511) genes were genotyped by amplifying the polymorphic region using multiplex polymerase chain reaction(PCR), followed by restriction enzyme digestion and gel electrophoresis. IL-1 RN(VNTR) polymorphism were then evaluated by PCR amplification and fragment size analysis in agarose gel. The allele 2 frequency was 41.3%, 4.3%, 47.8%, and 9.9% for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN respectively. The frequency of genotype with allele 2 carriage for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN was 77.1%, 7.6%, 63.0%, and 15.2% respectively. The allele 2 frequency in IL-1B(+3954) was significantly higher in female than in male population(p<0.05). The negative association was shown between the presence of allele 2 in IL-1B(-511) and in IL-1B(+3954), and the carriage rate of IL-1B(+3954) allele 2 tended to lower in IL-1B(-511) allele 2(P=0.056). Only 7.3% of children carried the composite genotype of IL-1A(+4845) and IL-1B(+3954). These results suggest that the polymorphism of IL-1B(+3954) and the positive composite genotype was relatively rare in Korean population.

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.1
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• pp.14-22
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• 2019

Objective: The aim of the study was to find a possible association between the ${\beta}-$ and ${\kappa}-casein$ and ${\beta}-lactoglobulin$ genotypes and important milk physiochemical and technological characteristics such as acidity, alcohol stability, the contents of some minerals and the parameters of acid fermentation ability (FEA) in Czech Fleckvieh Cattle. Methods: Milk and blood samples were collected from 338 primiparous Czech Fleckvieh cows at the same stage of lactation. The genotypes of individual cows for ${\kappa}-casein$ (alleles A, B, and E) and ${\beta}-lactoglobulin$ (alleles A and B) were ascertained by polymerase chain reaction-restriction fragment length polymorphism, while their ${\beta}-casein$ (alleles $A^1$, $A^2$, $A^3$, and B) genotype was determined using melting curve genotyping analysis. The data collected were i) milk traits including active acidity (pH), titratable acidity (TA), alcohol stability (AS); calcium (Ca), phosphorus (P), sodium (Na), magnesium (Mg), and potassium (K) contents; and ii) yoghurt traits including active acidity (Y-pH), titratable acidity (Y-TA), and the counts of both Lactobacilli and Streptococci in 1 mL of yoghurt. A linear model was assumed with fixed effects of herd, year, and season of calving, an effect of the age of the cow at first calving and effects of the casein and lactoglobulin genotypes of ${\beta}-CN$ (${\beta}-casein$, CSN2), ${\kappa}-CN$ (${\kappa}-casein$, CSN3), and ${\beta}-LG$ (${\beta}-lactoglobulin$, LGB), or the three-way interaction between those genes. Results: The genetic polymorphisms were related to the milk TA, AS, content of P and Ca, Y-pH and Lactobacilli number in the fresh yoghurt. The CSN3 genotype was significantly associated with milk AS (p<0.05). The effect of the composite CSN2-CSN3-LGB genotype on the investigated traits mostly reflected the effects of the individual genes. It significantly influenced TA (p<0.01), Y-pH (p<0.05) and the log of the Lactobacilli count (p<0.05). Conclusion: Our findings indicate that the yoghurt fermentation test together with milk proteins genotyping could contribute to milk quality control and highlight new perspectives in dairy cattle selection.

• Sleep Medicine and Psychophysiology
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• v.23 no.1
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• pp.25-28
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• 2016

Objectives: The retinoid-related orphan receptor A (RORA) gene has been reported to have an impact on circadian rhythm regulation. In this study, we analyzed the relationship between the RORA gene polymorphism and diurnal preference in Korean young adults. Methods: A population of 504 young adults was included in the study. All subjects were given and completed a 13-item composite scale for morningness (CSM). The RORA gene rs11071547 single-nucleotide polymorphism (SNP) was genotyped by PCR-based methods. Results: CSM score was not associated with genotype or allele carrier status of the RORA rs11071547 SNP. Conclusion: This result indicates that the RORA rs11071547 SNP does not play a role in diurnal preference.

• Animal Bioscience
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• v.37 no.5
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• pp.795-806
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• 2024

Objective: Karan Fries (KF), a high-producing composite cattle was developed through crossing indicine Tharparkar cows with taurine bulls (Holstein Friesian, Brown Swiss, and Jersey), to increase the milk yield across India. This composite cattle population must maintain sufficient genetic diversity for long-term development and breed improvement in the coming years. The level of linkage disequilibrium (LD) measures the influence of population genetic forces on the genomic structure and provides insights into the evolutionary history of populations, while the decay of LD is important in understanding the limits of genome-wide association studies for a population. Effective population size (N_e) which is genomically based on LD accumulated over the course of previous generations, is a valuable tool for e valuation of the genetic diversity and level of inbreeding. The present study was undertaken to understand KF population dynamics through the estimation of N_e and LD for the long-term sustainability of these breeds. Methods: The present study included 96 KF samples genotyped using Illumina HDBovine array to estimate the effective population and examine the LD pattern. The genotype data were also obtained for other crossbreds (Santa Gertrudis, Brangus, and Beefmaster) and Holstein Friesian cattle for comparison purposes. Results: The average LD between single nucleotide polymorphisms (SNPs) was r² = 0.13 in the present study. LD decay (r² = 0.2) was observed at 40 kb inter-marker distance, indicating a panel with 62,765 SNPs was sufficient for genomic breeding value estimation in KF cattle. The pedigree-based N_e of KF was determined to be 78, while the N_e estimates obtained using LD-based methods were 52 (SNeP) and 219 (genetic optimization for N_e estimation), respectively. Conclusion: KF cattle have an N_e exceeding the FAO's minimum recommended level of 50, which was desirable. The study also revealed significant population dynamics of KF cattle and increased our understanding of devising suitable breeding strategies for long-term sustainable development.

• Journal of Periodontal and Implant Science
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• v.34 no.3
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• pp.671-681
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• 2004

Genomic Project 이후로 다양한 질환에 있어서 유전적인 영향에 관한 연구가 진행되고 있다. 이 연구의 목적은 한국인 치주질환 환자에서 Fc ${\gamma}R$ 유전자의 유전자다형성과 치주질환 특성과의 관련성을 알아보는 것이다. 치주적으로 건강한 한국인 90명(대조군, 남자64명, 여자26명), 중도 만성 치주염환자 40명(severe chronic periodontitis patients; severe CP, 남자 24명, 여자 16명)을 대상으로 임상지수(치주낭 깊이, 입상부착소실, 치은지수, 치태지수, 탐침 후 출혈지수, 치조골소실)를 측정하였다. 또한 이들의 정맥혈에서 추출한 DNA를 PCR(Polymerase Chain Reaction)법, 전기영동법 등을 이용하여 Fc ${\gamma}RIIIa$ , Fc ${\gamma}RIIIb$의 대립유전자의 존재여부를 확인하였다. 이를 바탕으로 각 유전자의 다형성 및 Fc ${\gamma}R$ 복합유전자형 (Fc ${\gamma}R$ composite genotype)을 확인하여, 각 군 간을 비교하였다. 치주질환의 특성과 유전자 다형성과의 관련성을 알아보기 위하여 Fc ${\gamma}R$ 유전자에 대한 유전자다형성을 조사한 결과 다음과 같은 결과를 얻을 수 있었다. 1. Fc ${\gamma}RIIla$에 대한 유전자다형성 연구결과 대조군과 severe CP, AgP군 사이에서, severe CP와 AgP군 사이에서는 대립유전자분포가 서로 유의성 있는 차이를 나타내었지만(p<0.05), Fc ${\gamma}RIIlb$에서는 유의성 있는 차이를 보이지 않았다(p>0.05). 2. Fc ${\gamma}R$ 복합유전자형간의 비교에서 유의성 있는 차이를 발견할 수 없었다(p>0.05). 이와 같은 결과를 종합하여 볼 때 실험대상 한국인 치주염환자에서 Fc ${\gamma}R$ 유전자에 대한 다형성분석에서 Fc ${\gamma}RIIIa$ 대립유전자가 치주염에 대한 감수성과 관련되어 있다고 생각된다. 이 연구의 결과는 유전자의 차이가 치주질환의 감수성 판단의 자료로 활용할 수 있는 가능성을 보여주고 있다.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.28 no.5
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• pp.649-658
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• 1995

In order to estimate the level of genetic differences among the pleuronectid species, mitochondrial DNAs were isolated from four species: brown sole, Limanda herensteini; marbled sole, Limanda Yokohamae; stone flounder, Kareius bicoloratus; starry flounder, Platichthys stellatus, and the number of nucleotide substitutions was calculated by the restriction fragment length polymorphisms (RFIPs) generated by f4 sin base recognition restriction endonucleases. Total lengths of the mitochondrial DNA were measured as about 17.6 kbp in all species. Ten different composite genotypes were observed in brown sole, four different genotypes in marbled sole, and two different genotypes in starry flounder. However, only one genotype was observed in stone flounder. The calculated haplotypic diversity value of brown sole was higher than that of marbled sole. The average number of nucleotide substitutions per sites in four species was estimated to be 0.0045 in the intraspecies, 0.0344 in the interspecies, and 0.0457 in the genera, respectively. From these results, we could estimate that the genetic differences among interspecies were not influenced by nucleotide substitutions but genetical discontinuous.