• Asian-Australasian Journal of Animal Sciences
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• 제17권6호
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• pp.733-736
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• 2004

The study was carried out on eight Bos indicus cattle breeds namely, Sahiwal, Tharparkar, Nimari, Khilari, Deoni, Amritmahal, Hariana and Hilly cattle; two Bos taurus cattle breeds namely, Jersey and Holstein Friesian and Indicine${\times}$Taurine crossbred cattle to find out the polymorphic pattern of beta-lactoglobulin gene. The polymorphism at beta-lactoglobulin gene was detected by conducting PCR-RFLP studies on 398 bp fragment spanning over 104 bases of exon IV and 294 bases of intron IV. Two alleles A and B and three genotypes AA, AB and BB were observed in all the cattle breeds. The frequency of B allele was comparatively higher than that of A allele. The allelic frequency of A varied from 0.20 to 0.30 in Bos indicus cattle breeds and 0.19 to 0.34 in Bos taurus breeds while in crossbred cattle the frequency was estimated as 0.21. The weighted frequency of A allele was highest in Indian cattle and lowest in crossbred cattle while the frequency in taurine cattle was found to be in between indicus and crossbred cattle. The non-significant differences of allelic frequency amongst Bos indicus, Bos taurus and crossbred cattle was observed. The effect of genotype on fat percentage was also found to be non-significant in cattle.

• Asian-Australasian Journal of Animal Sciences
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• 제19권3호
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• pp.324-328
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• 2006

Carbonic anhydrase III (CA3) is a member of a multigene family that encode carbonic anhydrase isozymes. In this study, a complete coding sequence of the pig CA3 gene which encodes a 260 amino-acid protein was determined. The amino acid comparison showed high sequence similarities with previously identified human (86.5%) CA3 gene and mouse (91.5%) Car3 gene. The partial genomic DNA sequences were also investigated. The length of intron 1 was 727 bp. Comparative sequencing of three pig breeds revealed that there was a T${\rightarrow}$C substitution at position 363 within intron 1. The substitution was situated within a NcoI recognition site and was developed as a PCR-restriction fragment length polymorphism (RFLP) marker for further use in population variation investigations and association analysis. Two alleles (A and B) were identified, and 617 bp fragments were observed for the AA genotype and 236 bp and 381 bp fragments for the BB genotype. The polymorphism of CA3 was detected in 8 pig breeds. Allele B was predominant in the Western pig breeds. In addition, association studies of the CA3 polymorphism with carcass traits in 140 $Yorkshire{\times}Meishan$ $F_2$ offspring showed that the NcoI PCR- RFLP genotype may be associated with variation in several carcass traits of interest for pig breeding. Allele B was associated with increases in lean meat percentage, loin eye height and loin eye area. Statistically significant association with backfat thickness was also found; pigs with the AB genotype had much less backfat thickness than AA or BB genotypes.

• Asian Pacific Journal of Cancer Prevention
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• 제15권3호
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• pp.1255-1262
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• 2014

Background: The aim of the study was to investigate any associations between benign prostate hyperplasia (BPH) and single nucleotide polymorphisms (SNPs) in the VDR gene (FokI, BsmI, ApaI and Taq${\alpha}$I loci) and the CYP17 gene (MspA1I locus), as well as TA repeat polymorphism in SRD5A2 gene among Lebanese men. Materials and Methods: DNA extracted from blood of 68 subjects with confirmed BPH and 79 age-matched controls was subjected to PCR/PCR-restriction fragment length polymorphism analysis. The odds ra=tio (OR) of having a genotype and the relative risk (RR) of developing BPH for having the genotype were calculated and the alleles were designated risk-bearing or protective. Results: Our data indicated that the A and B alleles of the VDR ApaI and BsmI SNPs were highly associated with increased risk of BPH (p=0.0168 and 0.0002, respectively). Moreover, 63% of the controls compared to 43% of the subjects with BPH were homozygous for none of the risk-bearing alleles (p=0.0123) whereas 60% of the controls and 28% of the subjects with BPH were homozygous for two or more protective alleles (p<0.0001). Conclusions: For the first time, our study demonstrated that ApaI and BsmI of the VDR gene are associated with risk of BPH among Lebanese men. Our study also indicated that overall polymorphism profile of all the genes involved in prostate physiology could be a better predictor of BPH risk.

• 동의생리병리학회지
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• 제18권4호
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• pp.1192-1198
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• 2004

Sasang Constitutional Medicine is a major branch of Korean Traditional Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, I examined interrelationship among cerebral infarction (CI), apolipoprotein E (apo E) gene polymorphism, and Sasang constitutional classification. Apo E is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ε2 and/or ε4 alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. I investigated the association between apo E genotype and CI by case-control study in a Korean population. I also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 218 CI patients and 379 controls without CI were examined. Apo E genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A frequency of apo E ε3/ε3 in the apo E genotype distribution was higher in the CI patients compared with that in controls. Also, it was widely known that Taeumin was easily attacked with CI, but there was no association between apo E polymorphim and Taeumin. However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apo E ε2 and/or ε4 alleles. No differences in the apo E genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, I investigated whether the DD(deletion/deletion) or ID(insertion/deletion) genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apo E polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apo E ε3/ε4 and ACE ID/DD genotypes than in the remaining Sasang constitutions. In summary, it was concluded that the apo E polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apo E ε3/ε4 genotype and Taeumin constitution.

• Journal of Oral Medicine and Pain
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• 제18권1호
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• pp.45-53
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• 1993

It is known that human saliva includes various kinds of salivaru proteins that show genetic polymorphism. Withrespect to salivary protein polymorphism, this study was conducted on 160 healthy Koreans between the ages of 20 and 29 chosen randomly : their parotid slaiva was collected, freeze-dried, and horizontally electrophoresed over acid-urea starch gel. Aluminum lactate-lactic acid was also used as buffer solution. The gel was stained with amidoblack 10B/1% acetic acid solution, and then destained with 0.5M H2SO4 solution. Accordingly, the parotid middle-band protein(Pm) identified, and its phenotypes and gene frequency were obtained. The obtined results were as follows : 1. The phenotypes of parotid middle band protein(Pm) observed in parotid saliva of the 160 Koreans were Pm(+) in 91 people (56.9%) and Pm(-) in 69 people (43.1%) 2. The gene frequency of Pm+ was 0.343, and that of Pm-waw 0.657. 3. The gene frequency of parotid middle band protein (Pm) obtained from Korean's parotid saliva was midway between that of Japanese and Chinese.

• Advances in Traditional Medicine
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• 제4권2호
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• pp.104-111
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• 2004

Sasang Constitutional Medicine is a major branch of Korean Traditional Oriental Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, we examined interrelationship among cerebral infarction (CI), apolipoprotein E (apoE) gene polymorphism, and Sasang constitutional classification. ApoE is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. We investigated the association between apoE genotype and CI by case-control study in a Korean population. We also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 196 CI patients and 379 controls without CI were examined. ApoE genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A significant difference in the apoE genotype distribution was observed in the CI patients compared with that in controls ($X^{2}$=14.920, df=4, P=0.005). Also, the frequency of Taeumin constitution in patients with CI was significantly higher than that in controls (58.0% vs. 36.9%; P<0.001). However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apoE ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles. No differences in the apoE genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, we investigated whether the DD genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apoE polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apoE ${\varepsilon}3/{\varepsilon}4$ and ACE ID/DD genotypes than in the remaining Sasang constitutions (14.5% vs. 8.3% and 0%) ($X^{2}$=13.521, df=6, P=0.035). In summary, we concluded that the apoE polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apoE ${\varepsilon}3/{\varepsilon}4$ genotype and Taeumin constitution.

• Asian-Australasian Journal of Animal Sciences
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• 제21권8호
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• pp.1080-1087
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• 2008

Lipopolysaccharide binding protein (LBP) and CD14 protein play important roles in the defense against infection of Gram-negative bacteria. In the present study, tissue distribution and polymorphism of porcine LBP and CD14 genes were analyzed. Real-time PCR results showed that the porcine LBP gene was especially highly expressed in liver, while CD14 gene was highly expressed in liver and spleen tissues. A 1,732 bp cDNA fragment of porcine LBP gene and a 1,682 bp genomic DNA fragment of CD14 gene were isolated. Polymorphisms were identified in these two fragments and showed that there were 14 potential SNPs in the porcine LBP gene and 3 potential SNPs in the porcine CD14 gene. Three SNPs, 292G/A (Gly/Ser), 1168G/A (Ala/Thr) of the LBP gene and -61G/A of the CD14 gene, were genotyped using restriction fragment length polymorphism (RFLP) method. Association analyses indicated that polymorphism of the 292G/A locus was significantly associated with porcine immune traits hematocrit (HCT), IgG and delayed-type hypersensitivity (DTH) (p<0.01), and the 1168G/A locus was significantly associated with HCT and mean corpuscular volume (MCV) traits (p<0.05). No significant association was found between the -61G/A locus and immune traits of the pig. Our data indicated that the LBP gene was significantly associated with immune traits of pig. Also, we identified some SNPs which may be useful markers for disease-resistant breeding of pigs.

• Asian Pacific Journal of Cancer Prevention
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• 제16권13호
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• pp.5337-5341
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• 2015

Background: Individual susceptibility to cancer has been attributed to polymorphisms in xenobiotic metabolizing genes. To evaluate the association of the Leu432Val polymorphism of cytochrome P4501B1 (CYP1B1) with esophageal squamous cell carcinoma (ESCC), we conducted a case control study in Kashmir, India, an area with a relatively high incidence of ESCC. Materials and Methods: We recruited 404 histopathologically confirmed ESCC cases, and an equal number of controls, individually matched for sex, age and district of residence to respective cases. Information was obtained on various dietary, lifestyle and environmental factors in face to face interviews, using a structured questionnaire, from each subject. Genotypes were analysed by polymerase chain reaction, restriction fragment length polymorphism and sequencing of randomly selected samples. Conditional logistic regression models were used to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs). Results: Among the three possible variants, we did not find any Leu432Leu genotype of CYP1B1 in the study population and the genotypic distribution of Val432Val and Leu432Val carriers was nearly equal in both cases (89.6% and 10.4%) and controls (88.9% and 11.1%) respectively. We did not find any risk associated with this polymorphism in the current study (OR = 0.64; 95% CI: 0.55 - 1.64). Conclusions: The study indicates that (Leu432Val) polymorphism of CYP1B1, is not associated with ESCC risk. However, replicative studies with larger sample size are needed to substantiate the findings.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제12권2호
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• pp.179-191
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• 2001

연구목적：신생아의 행동 특성과 DAT1, DRD2, DRD3 및 DRD4 유전자 다형성 사이에 연관이 있는지 평가하였다. 방 법：2000년 4월 17일부터 2000년 6월 17일까지 출생한 정상 신생아 114명을 대상으로 하였다. 신생아 행동 평가는 Neonatal Behavioral Assessment Scale(NBAS)을 이용하여 생후 약 18시간에 평가하였으며, 출산시 제대혈액을 채취하여 DAT1, DRD2, DRD3 및 DRD4 유전자 다형성을 검사하였다. DAT1, DRD2, DRD3 및 DRD4 유전자의 유전자형에 따라서 집단 사이에 NBAS 7개 항목 점수를 비교하였다. 결 과：DAT1 유전자는 10/10 유전자형 집단과 비교해서 기타 유전자형 집단이 사회성-상호작용, 상태 조직력 및 상태 조절 능력 항목에서 유의하게 점수가 높았다. DRD2 유전자 Ser311/Cys311 유전자형은 Ser/Ser 유전자형 집단과 기타 유전자형 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD2 유전자는 TaqI A 및 TaqI B 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD3 유전자는 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD4 유전자 promoter 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD4 유전자 반복배열이 긴 유전자형 집단은 짧은 유전자형 집단보다 습관화 항목 점수가 유의하게 높았다. 결 론：이러한 성적은 DAT1 및 DRD4 유전자 반복배열 다형성이 신생아 행동 특성에 영향을 미치는 유전적 기전일 가능성을 시사한다.

• IMMUNE NETWORK
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• 제3권3호
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• pp.242-247
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• 2003

Background: Psoriasis is an inflammatory skin disorder that is characterized by a marked proliferation of keratinocytes, vascular dilation and leukocyte infiltration. Cytokines play important roles in the pathogenesis of inflammatory disorders. An overexpression of proinflammatory cytokines was characterized in psoriasis plaque. Among these cytokines, IL-$1{\beta}$ is major pro-inflammatory cytokine synthesized during the infection and inflammatory process. The IL-1 receptor antagonist (IL-1Ra) competes for the same IL-1 receptor for $IL-1{\alpha}$ and $-1{\beta}$, which prevents activation of the target cells. Three single nucleotide polymorphisms (SNPs) in the IL-$1{\beta}$ gene have been reported at position -31, -511 and +3954. Within the IL-1Ra gene (IL-1RN), there is a variable number of tandem repeats (VNTR) of an 86 bp length in intron 2. These polymorphisms related to cytokine production and associated with various diseases. Methods: We investigated the polymorphisms of IL-1B (promoter -511 and +3954) and IL-1RN on 114 psoriasis patients and 311 healthy normal controls in Korean. We performed PCR-RFLP on single nucleotide polymorphisms (SNPs) of IL-1B (promoter -511 and +3954) and fragment analysis on IL-1RN 86 bp VNTR polymorphism. Results: The frequency of IL-1B $-511^*1$ allele (patients vs. controls; 50.0% vs. 42.3%, RR=1.4) was significantly increased and IL-1B $-511^*2$ allele (patients vs. controls; 50.0% vs. 57.7%, RR=0.7) decreased in psoriasis patients compared to normal controls. We also analyzed the IL-1B -511 polymorphism according to patients' characters (age of onset, sex and family history). The IL-1B -511 alleles were significantly associated in patients with male and family history than health normal controls. There were no significant associations of IL-1B +3954 and IL-1RN polymorphisms with psoriasis patients. Conclusion: These results suggest that the polymorphism of IL-1B -511 could be genetic susceptibility to psoriasis in Koreans.