• Journal of Genetic Medicine
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• v.5 no.2
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• pp.105-110
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• 2008

Purpose: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for preeclampsia, and ICAM-1 plasma levels and/or function is genetically influenced. Therefore, we evaluated the distribution of ICAM-1 gene K469E polymorphism in pregnant Korean women with preeclampsia and evaluated the association between this polymorphism and preeclampsia. Methods: The K469E polymorphism was analyzed in peripheral blood samples from 197 preeclamptic pregnancies and 193 normotensive pregnancies by a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypic and allelic frequencies of ICAM-1 gene polymorphism (K469E) did not differ between preeclamptic and normotensive pregnancies. The distributions of the KK, KE, and EE genotypes were 40.6%, 43.7%, and 15.7%, respectively, in preeclamptic pregnancies and 38.9%, 45.1%, and 16.1%, respectively, in normotensive pregnancies. The frequencies of K and E alleles were 0.62 and 0.38, respectively, in preeclamptic pregnancies and 0.61 and 0.39, respectively, in normotensive pregnancies. By multiple logistic regression analysis, there was no increased risk of preeclampsia in subjects with ICAM-1 KE (OR, 1.08; P=0.74) or EE (OR, 1.07; P=0.88) genotypes. Conclusion: This study suggests that the ICAM-1 gene K469E polymorphism does not associate with an increased risk of preeclampsia in pregnant Korean women.

• Journal of Life Science
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• v.17 no.11
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• pp.1505-1510
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• 2007

We found 8 single nucleotide polymorphisms (SNPs) in adipocyte fatty acid bonding protein (FABP4) gene as candidate gene of FAT1 locus on pig chromosome 4. With over 800 heads of major commercial pig breeds including Duroc, Landrace, Berkshire and Yorkshire, we analyzed SNPs of FABP4 gene to determine possible effects of FABP4 genotype to economically important traits. $400{\sim}800\;bp$ amplicons in FABP4 gene were used PCR-RFLP for each SNPs and we found that the frequency of some SNPs of this gene was different among the breeds. According to the statistical analyses to determine possible associations of each genotype with economic traits, it was found that subgroup with different genotypes showed significant differences in daily gain, backfat thickness, lean percentage and feed conversion ratio (P<0.05). Thus, as a Part of enhancing the selection competence related to swine growth rate and lean percentage, it is expected that FABP4 gene markers verified in this study will be useful to use for Korean commercial pig industry.

• Journal of Animal Science and Technology
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• v.50 no.6
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• pp.733-740
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• 2008

The purpose of this study was to assess the genetic variation and establish the relationship amongst Hanwoo, Angus and Holstein breed. The genetic characteristics and variability within Hanwoo(300), Angus(80) and Holstein(50) were estimated on the basis of relationships determined using the 10 kinds of microsatellite, which is located on different chromosomes. Frequencies of microsatellites markers were used to estimate heterozygosities, polymorphic information content(PIC) and genetic distances. The PICs ranged from 0.604 to 0.872(Hanwoo), from 0.562 to 0.812(Angus) and from 0.471 to 0.828(Holstein). Observed heterozygosity and PIC of Hanwoo are the highest among the analyzed breeds. Additionally, Estimates of genetic distance can be utilized to identify genetic relationships between Hanwoo and the other breed. Genetic distances(0.233) between Hanwoo and Angus was lower than distances between Hanwoo and Holstein(2.283). Also, Genetic distances between Angus and Holstein was shown for(2,400). The other side, each individuals were not ramified to different group and were spread evenly in phylogenetic dendrogram about all the populations.

• Journal of Digital Convergence
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• v.14 no.1
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• pp.321-326
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• 2016

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 $TNF-{\alpha}-308$, -238 promoter genes, $TNF-{\beta}+252$ 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 $TNF-{\alpha}-308$. At the position of $TNF-{\alpha}-238$, the genotype distribution in the GAP were 25.5% and 74.5% for A/G and G/G genotypes. Allele A frequency of $TNF-{\alpha}-238$ were 67.6% in GAP and 72.2% in reference group. According to these findings, the polymorphism at $TNF-{\alpha}-308$ and -238 may be associated with GAP in Korean.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.26-32
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• 2004

Purpose : Hypercoagulability is present in patients with nephrotic syndrome. Plasminogen activator inhibitor type 1(PAI-1) is a major inhibitor of plasminogen activators. PAI-1 inactivates both tissue plasminogen activator(tPA) and urokinase plasminogen activator(uPA) by rapid formation of inactive 1:1 stoichiometric complexes. Recently some studies showed that the enhanced PAI-1 expression may be involved in the intraglomerular fibrinogen/fibrinrelated antigen deposition seen in nephrotic syndrome. Methods : PAI-1 gene promoter -844(G/A) polymorphism was evaluated in 146 children with minimal change nephrotic syndrome(MCNS) and 230 control subjects. The patients with MCNS were subdivided into 85 infrequent-relapser(IR) group and 61 frequent relapser(FR) group. PCR of PAI-1 gene promoter region including -844(G/A) and RFLP using the restriction enzyme Xhol were performed for each DNA samples extracted from the groups. Results : The distribution of PAI-1 genotype in the control group was G/G 81(32.5%), A/A 42(16.9%), and G/A 126(50.6%). The distribution of PAI-1 genotypes in the IR group of MCNS was G/G 29(34.1%), A/A 15(17.7%), and G/A 41(48.2%). The distribution of PAI-1 genotype in the FR group of MCNS was G/G 17(27.9%), A/A 18(29.5%), and G/A 26(42.6%). There was a significantly increased frequency of A/A genotype(P=0.0251) in the FR group of MCNS. Conclusion : Our results indicate that the PAI-1 gene promoter A/A genotype may be associated with the FR in MCNS.

• Journal of Life Science
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• v.31 no.7
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• pp.626-630
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• 2021

This study was conducted to examine the association between the myosin heavy chain 3 (MYH3) in 6-bp deletion variant genotypes and meat color traits in a crossbred pig population Landrace and Jeju native black pigs (JNBP). The longissimus dorsi, semimembranosus, triceps brachii and biceps femoris muscle from each carcass were used for the analysis of meat color traits. A total of 187 pigs and three meat color traits, CIE L^* (lightness), CIE a^* (redness), and CIE b^* (yellowness), were analyzed. All experimental pigs were successfully genotyped for the MYH3 6-bp deletion variant using Polymerase chain reaction (PCR) analysis. We detected three MYH3 6-bp deletion variant genotypes qq, Qq, and QQ with 0.091, 0.551 and 0.358 genotype frequencies, respectively. Compared to qq homozygotes, the MYH3 6-bp deletion QQ genotype animals showed a higher levels of the meat colors traits CIE L^* (lightness), CIE a^* (redness), and CIE b^* (yellowness) in longissimus dorsi (p>0.05, p<0.001, p<0.001), semimembranosus (p>0.05, p<0.001, p<0.001), triceps brachii (p<0.001, p<0.001, p<0.001), and biceps femoris (p<0.01, p<0.001, p<0.001), respectively. The QQ genotype pigs was associated with increasing meat color traits in the crossbred between Landrace and JNBP. Our findings suggest that the MYH3 6-bp deletion variant genotypes can be used as valuable genetic markers for JNBP-related breeding programs to improve meat quality and control meat color traits.

• Tuberculosis and Respiratory Diseases
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• v.55 no.1
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• pp.88-97
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• 2003

Background : Although smoking is a major cause of chronic obstructive pulmonary disease (COPD), only 10-20% of cigarette smokers develop symptomatic COPD, which suggests the presence of genetic susceptibility. This genetic susceptibility to COPD might depend on variations in the activities of the enzyme that detoxify hazardous chemical products, such as microsomal epoxide hydrolase (mEPHX) and glutathione-S transferase M1 subunit (GSTM1) genes. Methods : The genotypes of 58 patients with COPD, and 79 age matched control subjects, were determined by a polymerase chain reaction, followed by restriction fragment length polymorphism (PCR-RFLP) for the mEPHX, and multiplex PCR for the GSTM1. Results : GSTM1 was deleted in 53.3% of the subjects. There was no difference in GSTM1 deletion rates between the COPD patients (32/58, 55.2%) and the control subjects (41/79, 51.9%). The combination patterns of two polymorphisms of mEPHX showed slow enzyme activity in 29(21.2%), normal in 73(53.3%) and fast in 32(23.4%). The COPD group (7/57, 12.3%) showed a significantly lower incidence of slow enzyme activity compared to the control subjects (22/77, 28.6%, p<0.05). However, when the COPD and control groups were compared with smokers only, there were no significant differences in the genotypes of GSTM1 and mEPHX. Conclusion : The genotypes of GSTM1 and mEPHX were not significant risk factors of COPD in this cohort of study.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.33-39
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• 2000

Purpose: Our study was designed to investigate the association of MHC Class II (DR, DQ) allele with IgA nephropathy and its significance as a prognostic factor for progression to ESRD Material and Methods: 69 children with IgA nephropathy with normal renal function(serum creatinine $\leq$ 1.5mg/dL) was classified as group A and 70 patients who received renal transplantation due to IgA nephropathy were selected as group B. The HLA-DQB1 and HLA-DRB1 alleles were studied by polymerase chain reaction using sequence specific primers. We have compared the difference in alleles between these two groups and with normal control and also examined any possible effect of the MHC class II genes on the histopathological severity and prognosis of IgAN. Results: Mean age was $8.8{\pm}2.9$ years in group A and $35.0{\pm}15.5$ years in group B. Male to female ratio was 2.8:1 in group A and 2.5:1 in group B. There was a significantly higher frequency of HLA-$DQB1^*03\;and\;DQB1^*05$ in Group B. The frequency of HLA-$DQB1^*0302\;and\;^*05031$ allele had increasing tendency in Group B(P<0.05). HLA-$DRB1^*03\;and\;^*05$ were more common in Group B(P<0.05). HLA-$DRB1^*04$ allele was the most common DR alleles in both group, but there was no statistical significance. There were no significant correlation with MHC class 13 genes on the hjstopathological severity in Group A. Conclusion: In conclusion, $HLA-DQB1^*0302\;and\;HLA-DQB1^*05031 $ allele seemed to be more common in transplanted patients compared to group with normal renal function suggesting that this allele is associated with poor prognosis in IgAN. However larger studies and follow up are required to confirm this due to uncharacterized heterogeneity in etiopathogenesis of IgA nephropathy and possibly one or more than one gene may exert influence in determining susceptibility to the diseases.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.624-633
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• 2005

Purpose : This study analyzed the expression of HLA-DR and DQ genotypes and anti-thyroid autoantibodies[anti-thyroid peroxidase(TPO) and anti-thyroglobulin(TG) antibodies] in Korean patients with type 1 diabetes(T1DM) to investigate the susceptible HLA alleles to T1DM in Korea and the prevalence of thyroid autoantibodies and their significance for the development of thyroid disorders. Methods : A total of 59 Korean patients with type 1 diabetes[26 males, median age 13.7 years(range 5.7-29.9 years), diabetes duration 7.6 years(-1.7-22.5 years)] were enrolled in this study, and 200 healthy Koreans without a family history of diabetes were selected as a normal control for the comparison of HLA genotypes. Seventeen patients with anti-TPO or anti-TG were followed [median duration 3.96 years(1 day-10.7 years)] with measurement of anti-TPO, anti-TG, $T_3$, $T_4$ or free $T_4$, TSH levels and physical examinations. HLA-DR and DQ genotyping were done by PCR-SSO, PCR-SSCP, PCR-RFLP and PCR-SSP methods. Results : HLA analysis showed higher frequencies of HLA-DRB1*0301, *090102 and DQB1*0201, *030302 alleles, DRB1*0301/*090102, *090102/*090102 and DQB1 *0201/*030302, *030302/*030302, *0201/ *0302 genotypes in T1DM patients compared to controls(Pc<0.05). Fifteen(25.4 percent) had anti-TPO antibody, 12(20.3 percent) had anti-TG, 17(28.8 percent) had either autoantibody and 10(16.9 percent) had both autoantibodies. No clinical or subclinical hypothyroidism developed during follow-up after the first detection of anti-thyroid autoantibody. There was no significant correlation between thyroid autoimmunity and gender, onset age of T1DM, and diabetes duration, respectively(P>0.05). Conclusion : We thought this unique HLA-DR, DQ allele distribution might be an important factor for the low incidence of T1DM in Korea. And a high prevalence of thyroid autoantibodies in these populations suggests examinations of thyroid antibodies should be performed regularly. Optimal age for the initial screening and the frequency of re-screening for associated thyroid autoimmune diseases in T1DM remains to be determined through prospective follow-up.

• Environmental Analysis Health and Toxicology
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• v.19 no.2
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• pp.135-140
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• 2004

고혈압에서 지질대사 이상은 빈번히 나타나는 현상으로, 지질대사 이상에 관여하는 유전자들은 고혈압의 발병원인을 규명하기 위한 후보 유전자로 인식되어 왔다. 이에 본 연구에서는 paraoxonase 2(PON2) 유전자에 존재하는 Cys311Ser다형성을 유전자 표지로 이용하여 한국인 집단에서 이 유전자 표지가 고혈압과 관련성이 있는 지를 조사하고자 하였다. 연구 대상은 총 195명으로, 이들 중에서 82명은 고혈압 환자 군이었고, 나머지 113명은 정상 혈압 군이었다. PON2 유전자의 Cys311Ser 다형성을 분석하기 위해서 중합효소 연쇄반응과 제한 효소인 Dde Ⅰ처리를 수행하여 유전자형을 결정하였다. 연구 결과, Cys/Ser이 형접합체를 갖는 사람들이 고혈압군에서 유의하게 높은 빈도로 나타났으며(P<0.05),다른 신체 계측치 및 혈청내 지질 농도와는 유의한 관련성을 나타내지 않았다. 본 연구에서 관찰된 이러한 관련성이 기능적인 연관인지 혹은 연관불평형에 의한 결과인지에 대해서는 보다 더 많은 연구 대상을 이용한 추시를 통해 밝혀질 수 있을 것으로 생각된다.