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The progression of ischemic stroke is associated with inflammatory re-sponse, in which the nuclear factor kappa B subunit 1 (NFKB1) plays an important role. The aim of present study was to determine whether pro-moter single nucleotide polymorphism (SNP) in the NFKB1 gene was contributed to susceptibility of ischemic stroke. One hundred twen-ty-one Korean adult patients with ischemic stroke (65.7±12.1 years in age) and 291 Korean healthy controls (63.0±9.3 years in age) were re-cruited. We genotyped a promoter SNP (rs11940017, -1727, C/T) of NFKB1 gene using direct sequencing in 121 Korean ischemic stroke pa-tients and 291 control subjects. The T/C genotype of rs11940017 SNP in the codominant model (vs. the T/T genotype) (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.15–0.92; P=0.032) and the genotype contain-ing C allele (T/C and C/C) in the dominant model (vs. the T/T genotype) (OR, 0.33; 95% CI, 0.14–0.81; P=0.0068) were associated with a de-creased risk of ischemic stroke. The frequency of C allele was de-creased in ischemic stroke patients, compared with control subjects (OR, 0.31; 95% CI, 0.13–0.74; P=0.008). These results suggest that the promoter SNP (rs11940017, -1727, C/T) of NFKB1 gene may affect isch-emic stroke susceptibility in Korean population.

For evaluating the boar semen quality, sperm motility (MOT) is an important parameter because the movement of spermatozoa indicates active metabolism, membrane integrity and fertilizing capacity. Zygote arrest 1 (ZAR1) is oocyte-specific protein involved in the initiation of embryo development. but their functions have not been confirmed in pig until now. Therefore, this study was conducted to analyze their association with sperm motility and kinematic characteristics. DNA samples from 105 Duroc pigs with records of semen motility and kinematic characteristics〔Total motile spermatozoa (MOT), Curvilinear velocity(VCL), Straight-line velocity(VSL), the ratio between VSL and VCL(LIN), Amplitude of Lateral Head displacement(ALH)〕 were analyzed. A SNP in coding region of ZAR1 g.4095 C>A in intron 4 was associated with MOT in Duroc population. Therefore, we suggest that the porcine ZAR1 gene may be used as a molecular marker for Duroc boar semen quality, although its functional effects were not defined yet. These results might shed new light on the roles of ZAR1 in spermatogenesis as candidate gene for boar fertility, but still the lack of association across populations should be considered.

치주질환은 치아주위 조직에 발현된 염증성 질환이다. 전염증성 사이토카인인 TNF-α는 국소적인 염증이나 전반적인 염증과 관련이 있는 것으로 알려져 있다. 본 연구의 목적은 한국인에서 TNF 유전자 다형성과 전반적 급진 성 치주염 간의 관계를 알아보고자 하였다. 연구대상은 실험군이 60명, 대조군이 81명 이었다. 협측에서 DNA를 채 취하여 각 제한효소를 이용한 PCR-RFLP에 의해 TNF-α-308과 –238을 측정하였다. 급진성 치주염 환자에서 TNF-α -308 유전자형은 A/A 3.2%, A/G 38.7% 그리고 G/G 82.35%가 나타났으며 대조군에서는 각 9.1%, 45.5%, 45.5%로 유의한 차이를 보이는 결과이다. TNF-α-238의 대립유전자 2의 빈도는 실험군에서 67.6%, 대조군에서 72.2%로 유의 한 차이를 보였다. 이러한 결과에 따르면 TNF-α-308과 –238의 유전자다변성은 한국인의 급진성치주염과 연관이 있 을 것으로 생각된다.

The aim of this study was to evaluate the association between TNF polymorphism and generalized aggressive periodontitis (GAP) in Korean subjects. The study population consisted of 60 subjects with GAP and 81 reference group. Genomic DNA was extracted from the buccal swabs and the polymorphisms of TNF-α -308, -238 promoter genes, TNF-β+252 and TNFR 2+587 were determined by PCR-RFLP using restriction enzymes. The genotype distribution in the GAP were 3.2%, 38.7%, and 82.35% for A/A, A/G and G/G genotypes of TNF-α-308. At the position of TNF-α-238, the genotype distribution in the GAP were 25.5% and 74.5% for A/G and G/G genotypes. Allele A frequency of TNF-α-238 were 67.6% in GAP and 72.2% in reference group. According to these findings, the polymorphism at TNF-α-308 and -238 may be associated with GAP in Korean.

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.

The relationship of several candidate genes polymorphisms with breeding values of economic traits were investigated in Korean Native Pigs. Record (2001-2006) of 546 Korean native pigs were obtained from National Institute of Animal Science, Korea having data on average daily gain (ADG), age at 70 kg (D70 kg) and backfat thickness (BF). The data's obtained were analyzed by the DF-REML (Derivative-Free Restricted Maximum Likelihood) program of Boldman using a single-trait animal model to analyse the genetic parameters. The analysis of restriction fragment length polymorphism (RFLP) was conducted on 68 Korean native pigs (KNP) using single nucleotide polymorphism (SNP). Different genotype frequencies of 5 candidate genes such as MC4R, PRKAG3, FABP3, ESR and PRLR3 were observed in KNP. Significant relationship of AA and AB genotype between MC4R polymorphic site and breeding value for average daily gain (ADG, p<0.05) was observed. PRKAG3 polymorphic sites were also found to be significantly related to breeding values for ADG, AA, AB genotype (p<0.05) and also, for Backfat thickness (BF), days to 70 kg and BB genotype (p<0.05). In conclusion, selection method would be more effective if it encompasses significant genotype for performance traits and that would further aid in the selection of seed stock in KNP.

Pholiota species were collected from different geographical regions of the world. Genetic diversity and phylogenetic relationships were analyzed by rDNA-ITS sequences and RAPD polymorphism. The sizes of rDNA-ITS PCR amplicons of Pholiota spp. varied from 233~271, 158~223 and 174~219 bp, respectively. A phylogenetic tree was constructed on the ITS region sequences and Pholiota strains were classified into 8 clusters. Twenty strains in seven Pholiota spp. were classified into seven clusters by RAPD polymorphism using 15 arbitrary primers. Our experimental results suggested that rDN-ITS and RAPD analysis are useful tool for classifying Pholiota spp. and strains.

The karyotype of F. velutipes Korean cultivar, Fv 3-6, was compared with those of Japanese cultivars, Fv 0-1, Fv 1-5, Fv 11-1, by CHEF gel electrophoresis. The Korean cultivar, Fv 3-6, showed the difference from the three Japanese cultivars in number and size of chromosomes; the Fv 3-6 had two and one more chromosomes then Fv 0-1 and Fv 11-4, and Fv 1-5 had, respectively. The karyotyping by CHEF gel electrophoresis is quite suitable to define new Korean cultivars against Japanese cultivars.

There are four (yellow, brindle, black, black in Jeju) kinds of native cattle in Korea. But only twelve hundred Korean brindle cattle (KBC) are remaining in limited areas of Korea and the genetic lineage, diversity, polymorphisms of KBC has not been identified. To analysis genetic polymorphism of KBC, 33 KBC were characterized using 11 microsatellite markers. Size of microsatellite marker was decided using Gene Mapper software after analysis ABI 3130XL. The average of allele numbers of KBC was 6.7 in this study, but that of Hanwoo was 10.0 in our previous report. The observed and expected heterozygosities of KBC were 0.719 and 0.738 but those of Hanwoo were 0.751 and 0.760 in our previous report. Also polymorphism information content (PIC) values were average 0.690 in KBC but 0.725 in Hanwoo. These results demonstrate that genetic polymorphism of KBC have decreased because the population was limited.

생물체의 체내 지방대사에 아주 중요하게 작용하는 LPL의 유전자 구조변이가 한우의 경제형질에 미치는 효과를 구명하고자, 사람 등 포유류에서 주요한 변이부위로 인식되어 온 LPL유전자의 exon 5~exon 6 영역에서 구조변이를 탐색하였다. 부모가 각기 다른 한우 24두를 이용하여 PCR 증폭산물 1674 bp (exon 5~exon 6)에서 총 8 좌위의 SNP 검출하였는데, 이는 SNP 검출율이 약 1SNP/210bp로 기존 SNP 검출율 보다 비교적 높은 비율이며, 검출된 SNP들 간에 95% 이상의 높은 연관(linkage) 관계를 보여 비교적 잘 보존되어 있는 영역으로 사료된다. 그리고 검출된 SNP를 PCR-RFLP 기법을 이용하여 표현형질 기록치를 확보한 한우 33차 후대검정축 129두의 유전자형을 결정하였다. 그 결과 intron 5번의 제한효소 Hae III로 처리한 823A→G 변이부위가 측정된 모든 도체형질에서 유전자형에 따라 뚜렷한 차이를 보였으며, 특히 근내지방도와 통계적 유의성이 인정되었다(p<0.05). 사람 및 생쥐에서 LPL의 촉매활성부위를 암호화하는 exon 5번 및 6번에서의 변이는 LPL의 활성도에 영향을 미치며, 이는 혈액내의 중성지방농도 및 지방대사에 작용한다는 보고가 있다. 이들 변이구조와 95% 이상 강한 연관을 보이는 intron 5번의 구조변이는 근내지방도와 유의적으로 관찰되었다. 앞으로, intron 5번의 823A→G 변이가 어떤 근거로 근내지방도와 유의적으로 나타났는지 그 근거를 증명할 수 있는 추가적인 실험이 필요한 것으로 사료된다.

The primary role of lipoprotein lipase(LPL) is the hydrolysis of triglycerides(TG) from the core of triglyceride-rich lipoproteins such as chylomicrons and very low density lipoproteins in plasma. Fatty acids liberated by LPL on capillary endothelial surfaces are available for tissues as energy sources especially in muscles or for storage in the form of TG in adipose tissues. Therefore, as the candidate gene related to the carcass traits of the beef cattle, we have directly sequenced the exon 5~exon 6 region in the bovine LPL gene for discovery of single nucleotide polymorphism(SNP) with 24 unrelated Hanwoo(Korean cattle). Novel eight sequence variants were detected: three loci on exon 5, three on intron 5 and two on exon 6. All SNPs identified were strongly linked each other, and one hundred twenty eight Hanwoo samples were genotyped one SNP on intron 5 using PCR-restriction fragment length polymorphism method by digestion with Hae III restriction enzyme. The allele frequency of the polymorphism was 0.76 and 0.24. The effects of this polymorphism on the breeding values of the carcass weight, loin muscle area, back fat thickness and marbling score were analyzed using least square methods of SAS GLM. The marbling score of BB genotype was significantly higher than those of AA and AB genotypes(P<0.05). This result indicates that this polymorphism may be associated with the variation of marbling score. Further study is warranted to investigate the phenotypic association in Hanwoo.

돼지 Duroc 품종의 mitochondria DNA D-loop전체 유전자를 증폭하기 위하여 많은 동물에서 고도로 상동성이 높은 tRNA-Pro와 tRNA-Phe 염기서열 일부를 이용하여 oligonucleotide primer를 제작하였다. 그 결과 Duroc 품종의 D-loop 전체 유전자는 1,145 base pairs 였으며, 그 중간위치에 10bp의 Sus Scrofa-specific sequence (TACACGTGCG)가 10개 존재하고 있었다. 돌연변이 검출을 위하여 가장 변이가 심한 지역을 primer 제작하여 345 bp의 DNA 단편을 증폭하였으며, Single Stranded Conformation Polymorphism(SSCP) 분석은 8% polyacrylamide gel에서 200 V, 16시간 전기영동하여 ethidium bromide (EtBr)로 10분간 염색하여 UV image analyzer로 관찰하였다. 그 결과 두 개의 서로 다른 밴드유형을 관찰하였으며, 21개 부위에서 염기서열 변이가 관찰되었다. 이러한 결과는 유전적 다양성 변이를 검출하는데 SSCP 분석이 유용한 도구라고 사료된다.

The mitochondrial DNA(mtDNA) D-loop region was amplified from Duroc(Sus scrofa) by polymerase chain reaction(PCR). The oligonucleotide primer used to amplify the Sus scrofa mtDNA D-loop region was designed using tRNA-Pro and tRNA-Phe sequence in mtDNA regions highly conserved in many other animal species. There were 1,145 base pairs(bp) in the D-loop region. The middle of the region contained 10 tandem repeat of an 10-bp Sus scrofa-specific sequence, TACACGTGCG. We designed primers for PCR-mediated single stranded conformation polymorphism(SSCP) analysis that amplified a 345 bp fragment, which contained the most variable region according to our sequencing data. SSCP analysis of denatured amplification products was carried out by polyacrylamide(8%) gel electrophoresis followed by ethidium bromide staining. The SSCP analysis identified two band patterns(A and B) and comparision of these two nucleotide sequences identified 21 base substitutions. These results show that SSCP analysis of the D-loop region is useful for detecting the genetic polymorphism.

The Hanwoo traceability system currently utilizes 11 dinucleotide repeat microsatellite (MS) markers. However, dinucleotide repeat markers are known to have a high incidence of polymerase chain reaction (PCR) artifacts, such as stutter bands, which can complicate the accurate reading of alleles. In this study, we examined the polymorphisms of the 11 dinucleotide repeat MS markers currently employed in traceability systems. Additionally, we explored four trinucleotide repeat MS markers and one tetranucleotide repeat MS marker in a sample of 1,106 Hanwoo cattle. We also assessed the potential utility of the tri- and tetranucleotide repeat MS markers. The polymorphic information content (PIC) of the five tri- and tetranucleotide repeat markers ranged from 0.663 to 0.767 (mean: 0.722), sufficiently polymorphic and slightly higher than the mean (0.716) of the current 11 dinucleotide repeat markers. Using all 16 markers, the mean PIC was 0.718. The estimated probability of identity (PI) was 3.13 × 10?12 using the 11 dinucleotide repeat markers, 7.03 × 10?6 using the five tri- and tetranucleotide repeat markers, and 2.39 × 10?17 using all 16 markers; the respective PIhalf-sibs values were 2.69 × 10?9, 1.29 × 10?4, and 3.42 × 10?13; and the respective PIsibs values were 3.89 × 10?5, 9.6 × 10?3, and 3.69 × 10?7. The probability of exclusion1 (PE1) was 0.999864 for the 11 dinucleotide repeat markers, 0.981141 for five of the tri- and tetranucleotide repeat markers, and > 0.99 for all 16 markers; the respective PE2 values were 0.994632, 0.901369, and > 0.99; and the respective PE3 values were 0.998702, > 0.99, and > 0.99. The five investigated triand tetranucleotide repeat MS markers can be used in combination with the 11 existing MS markers to improve the accuracy of individual identification and paternity testing in Hanwoo.

Objective To investigate whether four single nucleotide polymorphisms (SNPs) rs2293054 [Ile734Ile], rs1047735 [His902His], rs2293044 [Val1353Val], rs2682826 (3’UTR) of nitric oxide synthase 1 (NOS1) are associated with the development and clinical phenotypes of ischemic stroke.Methods We enrolled 120 ischemic stroke patients and 314 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of the National Institutes of Health Stroke Survey (NIHSS, <6 and ≥6) and Modified Barthel Index (MBI, <60 and ≥60). SNPStats, SNPAnalyzer, and HelixTree programs were used to calculate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. Multiple logistic regression models were performed to analyze genetic data. Results No SNPs of the NOS1 gene were found to be associated with ischemic stroke. However, in an analysis of clinical phenotypes, we found that rs2293054 was associated with the NIHSS scores of ischemic stroke patients in codominant (p=0.019), dominant (p=0.007), overdominant (p=0.033), and log-additive (p=0.0048) models. Also, rs2682826 revealed a significant association in the recessive model (p=0.034). In allele frequency analysis, we also found that the T alleles of rs2293054 were associated with lower NIHSS scores (p=0.007). Respectively, rs2293054 had a significant association in the MBI scores of ischemic stroke in codominant (p=0.038), dominant (p=0.031), overdominant (p=0.045), and log-additive (p=0.04) models.Conclusion These results suggest that NOS1 may be related to the clinical phenotypes of ischemic stroke in Korean population.

Background: The Korean native pig (KNP) is generally thought to have come from northern China to the Koreanpeninsula approximately 2000 years ago. KNP pigs were at the brink of extinction in the 1980s, since then effortshave been made to restore the breed by bringing together the remaining stocks in South Korea. As a result, KNPwas registered as a breed in 2006. To find additional breed-specific markers that are distinct among pig breeds,variations in O-linked N-acetylglucosamine transferase (OGT) were investigated. OGT is located on chromosome X andcatalyzes the post-translational addition of a single O-linked-β-N-acetylglucosamine to target proteins. Findings: Length polymorphism in the intron 20 of OGT was identified. The intron 20 of OGT from Duroc, Landrace,and Yorkshire breeds was 281-bp longer than that from either KNP or Chinese Meishan pigs. The differencebetween the Western pig breeds (BB genotype) and KNP or Meishan pigs (AA genotype) was due to an inserted276-bp element and the 5-bp ACTTG. Conclusions: The polymorphism in OGT identified in this study may be used as an additional marker fordetermining the breed of origin among Meishan and the Western pig breeds. The length polymorphism suggeststhat the locus near OGT is not fixed in KNP. This marker would be relevant in determining the breed of origin incrossbred pigs between KNP pigs with known genotypes and the Western pig breeds with BB genotypes, thusconfirming the contribution of the X chromosome from each breed.