• Asian-Australasian Journal of Animal Sciences
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• v.16 no.4
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• pp.494-497
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• 2003

The study was carried out in Sahiwal, Holstein Friesian, Jersey and crossbred cattle and Murrah, Bhadwari, Jaffarabadi, Nagpuri and Surti buffaloes maintained at different organized herds to work out the polymorphism at growth hormone locus and study its effect on birth weight. A 223 bp fragment of the gene was amplified and digested with Alu I restriction enzyme. Two alleles, L and V with three genotypes LL, LV and VV were observed in Jersey, Holstein and cross bred cattle. Sahiwal cattle and buffalo were monomorphic for this locus producing only one genotype LL and one allele L. The frequency of L allele was comparatively higher in Holstein and crossbred cattle while in Jersey breed, the frequency of this allele was intermediate. The effect of genotype on birth weight was significant and LV genotype had higher birth weight than other genotypes. Hence, LV genotype in Holstein Friesian favored higher birth weight.

• The Journal of Korean Medicine
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• v.25 no.3
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• pp.105-110
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• 2004

Objectives : Sasang Constitutional Medicine is based on the diversity of human beings and medically developing a variation of responses to diseases and medicines. This diversity is categorized into four concerning morphology, physiology, pathology, and pharmacology. It is supposed that sasang constitutional medicine is related the genetic diversity of individuals. Single nucleotide polymorphism is the basic tool to research genetic polymorphism as a landmark of genomes. Each constitution has different processes of pathophysiology and metabolisms to herb medications. In clinical research, the stroke incidence is significantly different by constitution. Methods : We researched whether the polymorphic expression of CCK (rs=2241997) depends on sasang constitution. The [c/t] polymorphism site of promotor region of CCK gene on 3p22-p21.3 was investigated. Results : The allele frequency of [c/t] polymorphism of CCK promotor region was different in constitution groups compared to the average allele frequency of SNP DB. The allele frequencies of Soeumin and Soyangin groups were (c:0.70/t:0.30). and (c:0.71/t:0.29), that of Taeumin group was (c:0.57/t:0.43) and of Taeyangin group was (c:1.00/t:0.00) Conclusions : It was regarded the [c/t] polymorphism of CCK promotor region is available to classify the constitution. However, it is necessary to research about CCK gene polymorphism and more constitution population groups. It is also necessary to research the more functional gene's polymorphism and sasang constitution.

• Genomics & Informatics
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• v.17 no.1
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• pp.9.1-9.5
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• 2019

In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first intron sites by estimating the quantity of rare alleles in the first intron. A basic hypothesis posited herein is that genomic regions carrying more functionally important sites will have a higher proportion of rare alleles. We estimated the proportions of rare single nucleotide polymorphisms with a minor allele frequency < 0.01 located in several histone marks in the first introns of various genes, and compared them with those in other introns and those in 2-kb upstream regions. As expected, rare alleles were found to be significantly enriched in most of the regulatory sites located in the first introns. Meanwhile, transcription factor binding sites were significantly more enriched in the 2-kb upstream regions (i.e., the regions of putative promoters of genes) than in the first introns. These results strongly support our proposal that the first intron sites of genes may have important regulatory functions in gene expression independent of promoters.

• Journal of Animal Science and Technology
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• v.44 no.1
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• pp.23-30
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• 2002

PCR-RFLP analysis was carried out to investigate the genotype of Melanocortin receptor 1 (MC1R) gene in Korean Brindle Cattle and Korean Cattle with dark muzzle, which are coat color and muzzle pigmentation variants of Korean Cattle, respectively. Allelic variants of MC1R in cattle were analyzed by digestion with BsrFⅠ, AciⅠ. Among six genotypes, $E^D/E^D,\;E^D/E^+,\;E^D/e,\;E^+/E^+,\;E^+$/e and e/e, detected in cattle, only two genotypes, $E^+/E^+\;and\;E^+$/e, were observed in Korean Brindle Cattle, probably reflecting the necessary of $E^+$ allele for the expression of black brindle coat color. As in Korean Cattle with light muzzle, the $E^+$/e and e/e genotypes were detected in Korean Cattle with dark muzzle. The $E^+$ and e alleles frequencies in two populations of Korean Cattle with dark muzzle and with light muzzle were 0.37, 0.63 and 0,11, 0.89, respectively. Although the frequency of $E^+$ allele in Korean Cattle with dark muzzle was higher than in Korean Cattle with light muzzle, the $E^+$ allele was not completely associated with dark muzzle pigmentation. The results of this experiment indicate that the difference of MC1R genotype and frequency may be useful for fixation of coat color in Korean Cattle as well as Korean Brindle Cattle.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.5
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• pp.2903-2908
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• 2013

Background: Various oncogenes related to cancer have been extensively studied and several polymorphisms have been found to be associated with breast cancer. The current report outlines analysis of germ-line polymorphisms for C677T, A1298C (MTHFR), Leiden, R2 (FV) and 5G/4G (PAI-1) in Turkish breast cancer patients. We studied 51 cases diagnosed with invasive ductal and operable with lymph node-positive breast cancer and 106 women as a control group. Materials and Methods: Peripheric blood-DNA samples were used for genotyping by StripAssay technique which is based on the reverse-hybridization principle and real-time PCR methods and results were compared statistically. Results: The frequency of the MTHFR gene 677T and 1298A alleles were significantly higher in cancer patients than in the healthy subjects. The T allele frequency in codon 677 was 2.3-fold and C allele frequency was 3.1-fold increased in BC when compared to the control group for the MTHFR gene. Both differences were statistically significant (OR: 2.295, CI: 1.283-4.106), p<0.006 and (OR: 3.131, CI:1.826-5.369), p<0.0001 respectively. The R2 allele frequency of FV gene was 5.1-fold increased in the current BC when compared to the control group and that difference was also statistically significant (OR: 5.133, CI: 1.299-20.28), p<0.02. Conclusions: The present data suggest that germ-line polymorphisms of C677T, C1298A for MTHFR and R2 for FV are associated in breast cancer and may be additional prognostic markers related to breast cancer survival. The results now need to be confirmed in a larger group of patients.

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.4
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• pp.467-476
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• 2019

Objective: This research was conducted to study the genetic diversity in several Indonesian cattle breeds using microsatellite markers to classify the Indonesian cattle breeds. Methods: A total of 229 DNA samples from of 10 cattle breeds were used in this study. The polymerase chain reaction process was conducted using 12 labeled primers. The size of allele was generated using the multiplex DNA fragment analysis. The POPGEN and CERVUS programs were used to obtain the observed number of alleles, effective number of alleles, observed heterozygosity value, expected heterozygosity value, allele frequency, genetic differentiation, the global heterozygote deficit among breeds, and the heterozygote deficit within the breed, gene flow, Hardy-Weinberg equilibrium, and polymorphism information content values. The MEGA program was used to generate a dendrogram that illustrates the relationship among cattle population. Bayesian clustering assignments were analyzed using STRUCTURE program. The GENETIX program was used to perform the correspondence factorial analysis (CFA). The GENALEX program was used to perform the principal coordinates analysis (PCoA) and analysis of molecular variance. The principal component analysis (PCA) was performed using adegenet package of R program. Results: A total of 862 alleles were detected in this study. The INRA23 allele 205 is a specific allele candidate for the Sumba Ongole cattle, while the allele 219 is a specific allele candidate for Ongole Grade. This study revealed a very close genetic relationship between the Ongole Grade and Sumba Ongole cattle and between the Madura and Pasundan cattle. The results from the CFA, PCoA, and PCA analysis in this study provide scientific evidence regarding the genetic relationship between Banteng and Bali cattle. According to the genetic relationship, the Pesisir cattle were classified as Bos indicus cattle. Conclusion: All identified alleles in this study were able to classify the cattle population into three clusters i.e. Bos taurus cluster (Simmental Purebred, Simmental Crossbred, and Holstein Friesian cattle); Bos indicus cluster (Sumba Ongole, Ongole Grade, Madura, Pasundan, and Pesisir cattle); and Bos javanicus cluster (Banteng and Bali cattle).

• Genomics & Informatics
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• v.20 no.4
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• pp.42.1-42.11
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• 2022

Breast cancer (BC) is a significant threat to female health, with both modifiable and non-modifiable risk factors. It is essential to monitor patients regularly and to raise population awareness. Increasing research also suggests that E-selectin (SELE) may increase tumor angiogenesis and the development of cancer. This study investigated SELE single-nucleotide polymorphisms (SNPs) in the following positions: rs5367T/C, rs5368C/T, rs5362T/G, and rs5362T/C. Using polymerase chain reaction, significant differences in allele and genotype frequencies were found between BC patients and controls. Position rs5368 was associated with an increased risk of BC for the CT and TT genotypes, with odds ratios (ORs) of 16.3 and 6.90 (Fisher probability = 0.0001, p = 0.005). Women with the T allele had a 19.3-fold higher incidence of BC, while allele C may be a protective allele against BC (OR, 0.05). Heterozygous genotypes at rs5367, rs5362, and rs5362 were significantly more common in BC patients, with ORs of 5.70, 4.50, and 3.80, respectively. These SNPs may be associated with the risk of BC, because the frequency of mutant alleles was significantly higher in patients (OR: 4.26, 3.83, and 4.30, respectively) than in controls (OR: 0.23, 0.30, and 0.20, respectively). These SNPs may be considered a common genotype in the Iraqi population, with the wild-type allele having a protective fraction and the mutant allele having an environmental fraction. The results also revealed a 2-fold increase in gene expression in BC patients compared to controls, with a significant effect (p = 0.017). This study's findings confirm the importance of SELE polymorphisms in cancer risk prediction.

• IMMUNE NETWORK
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• v.3 no.2
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• pp.145-149
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• 2003

Background: Apoptosis has been implicated in pathogenesis of various disease. Apo-1/Fas (CD95) is one of the main pathway of apoptosis. To examine the possible relationship between Apo-1/Fas (CD95) and primary knee osteoarthritis, MvaI restriction length polymorphism (RFLP) in human Apo-1/Fas (CD95) gene was assessed. Methods: Genotype and allele frequencies in promoter region in the Apo-1/Fas (CD95) gene were studied by PCR-RFLP in 226 Korean controls and 148 Korean patients with primary knee osteoarthritis. Results: No statistically significant difference in the genotypic distribution and allelic frequencies was found between the control and the knee oateoarthritis patients. But in the severe grade (grade 3, 4) Kellgren-Lawrence score patients, the frequency of $MvaI^*1$ (G) allele was significantly decreased (P=0.0392) and the of $MvaI^*2$ (A) allele frequency was significantly increased (P=0.0473) compared to the normal controls. Conclusion: Apo-1/Fas (CD95) gene polymorphism is a part a determinant factor of severity in knee osteoarthritis, the patients with $MvaI^*2$ (A) allele is more severe radiologic progression. Further substantiation studies are needed in larger patient samples and various other apoptosis related genes to elucidate the mechanism of osteoarthritis, including the Fas ligand gene analysis.

• BMB Reports
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• v.38 no.4
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• pp.486-490
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• 2005

Genetic factors are important in the pathogenesis of coronary artery disease (CAD). Angiotensin converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism is one of the genetic factor found to be related with CAD. We investigated the association between I/D polymorphism of the ACE gene and the presence of CAD. Threehundred and seven patients (187 males and 120 females, aged between 35-80, mean $54.3{\pm}9.8$ years) who underwent diagnostic coronary angiography were included in the study. ACE I/D polymorphism was detected by polymerase chain reaction. Of the 307, 176 had CAD. The most frequently observed genotype in all subjects was ID (47.9 %). However, in patients with CAD the frequency of II genotype was lower whereas DD genotype was higher compared to the controls (p < 0.05). The number of D allele carrying subjects were also higher (p < 0.05) in CAD patients. The logistic regression analysis indicated that the ACE D allele is an independent risk factor (odds ratio = 1.48, 95% CI = 1.01-2.18, p < 0.05). In conclusion, the I/D polymorphism of ACE gene (carrying D allele) is an independent risk factor for CAD in the studied Turkish population.

• Proceedings of the Korea Society of Environmental Toocicology Conference
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• 2003.05a
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• pp.176-176
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• 2003

In the previous studies, some genetic polymorphisms in the human mitochondrial DNA have been associated with athletic performance in several populations. To investigate the relationship between mitochondrial DNA 5178A/C polymorphism and athletic performance in Korean population, blood samples were collected from 100 male Korean elite athletes and 64 sedentary controls. There was no significant difference in allele frequency of mitochondrial DNA 5178A/C polymorphism between two groups (P > 0.05). However, 5178A allele frequency in Korean population was very higher than those in other populations studied. Because it has been reported that this genetic polymorphisms is associated with longevity, further study will be needed to clarify the relationship between this genetic polymorphism and life expectancy of Korean population.