• Title/Summary/Keyword: Genetic Polymorphisms

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AFLP Fingerprinting of Brassica campestis L. ssp. napus var. nippo-oleifera Makino from Korea

  • Huh, Man-Kyu;Huh, Hong-Wook
    • Animal cells and systems
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    • v.5 no.2
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    • pp.101-106
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    • 2001
  • AFLPS (amplified fragment length polymorphisms) were used to estimate the genetic diversity of seven populations of Brassica campestis L. ssp. napus var. nippo-oleifera Makino between naturalized and cultivated populations. The seven Korean populations maintained a high level of genetic diversity. For example, all eight primers were high polymorphic, with an average of 3.2 effective alleles per primer set, and the expected heterozygosity was also high. The majority of genetic variance resided within populations The combinations of an insect-pollinated, outcrossing breeding system, large populations sizes, a high degree of gene flow and a propensity for high fecundity may explain the high level of genetic diversity within cultivated populations. Estimates of genetic similarity on the proportion of shared fragments ranged from 0.952 to 0.999. The high level of gene flow In Korean naturalized populations is mainly caused by seed dispersal via sea tide and the gene flow of cultivated populations may be enhanced in part by artificial pollen dispersal.

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Identification of SNPs in Cellular Retinol Binding Protein 1 and Cellular Retinol Binding Protein 3 Genes and Their Associations with Laying Performance Traits in Erlang Mountainous Chicken

  • Wang, Yan;Xiao, Li-Hua;Zhao, Xiao-Ling;Liu, Yi-Ping;Zhu, Qing
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.8
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    • pp.1075-1081
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    • 2014
  • CRBP1 (cellular retinol binding protein 1) and CRBP3 (cellular retinol binding protein 3), are important components of the retinoid signaling pathway and take part in vitamin A absorption, transport and metabolism. Based on the role of vitamin A in chicken laying performance, we investigated the polymorphism of CRBP1 and CRBP3 genes in 349 chickens using single strand conformation polymorphism and DNA sequencing methods. Only one polymorphism was identified in the third intron of CRBP1, two polymorphisms were detected in CRBP3; they were located in the second intron and the third intron respectively. The association studies between these three SNPs and laying performance traits were performed in Erlang mountainous chicken. Notably, the SNP g.14604G>T of CRBP1 was shown to be significantly associated with body weight at first egg (BWFE), age at first egg (AFE), weight at first egg (WFE) and total number of eggs with 300 age (EN). The CRBP3 polymorphism g.934C>G was associated with AFE, and the g.1324A>G was associated with AFE and BWFE, but none of these polymorphisms were associated with egg quality traits. Haplotype combinations constructed on these two SNPs of CRBP3 gene were associated with BWFE and AFE. In particular, diplotype H2H2 had positive effect on AFE, BWFE, EN, and average egg-laying interval. We herein describe for the first time basic research on the polymorphism of chicken CRBP1 and CRBP3 genes that is predictive of genetic potential for laying performance in chicken.

Distribution of Glutathione S-Transferase Omega Gene Polymorphism with Different Stages of HBV Infection Including Hepatocellular Carcinoma in the Egyptian Population

  • Shaban, Nadia Z;Salem, Halima H;Elsadany, Mohamed A;Ali, Bahy A;Hassona, Ehab M;Mogahed, Fayed AK
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.2145-2150
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    • 2016
  • Background: Infection with hepatitis B virus (HBV) is a major global public health problem, with a wide spectrum of clinical manifestations. Human cytosolic glutathione-S-transferases (GSTs) include several classes such as alpha (A), mu (M), pi (P), sigma (S), zeta (Z), omega (O) and theta (T). The present study aimed to investigate the role of GST omega genes (GSTO1 and GSTO2) in different groups of patients infected with HBV. Materials and Methods: HBV groups were classified according to clinical history, serological tests and histological analysis into normal carriers (N), acute (A), chronic (CH), cirrhosis (CI) and hepatocellular carcinoma (HCC) cases. The study focused on determination of the genotypes of GST omega genes (GSTO1 and GSTO2) and GST activity and liver function tests. Results: The results showed that GSTO1 (A/A) was decreased in N, A, CH, CI and HCC groups compared to the C-group, while, GSTO1 (C/A) and GSTO1(C/C) genotypes were increased significantly in N, A, CH, CI and HCC groups. GSTO2 (A/A) was decreased in all studied groups as compared to the C-group but GSTO2(A/G) and GSTO2(G/G) genotypes were increased significantly. In addition, GST activities, albumin and TP levels were decreased in all studied groups compared to the C-group, while the activities of transaminases were increased to differing degrees. Conclusions: The results indicate that GSTO genetic polymorphisms may be considered as biomarkers for determining and predicting the progression of HBV infection.

Genetic Variations of Eight Candidate Genes in Korean Obese Group

  • Kang, Byung-Youn;Lee, Kang-Oh;Bae, Joon-Seol;Kim, Ki-Tae;Yoon, Moon-Young;Lim, Seok-Rhin;Seo, Sang-Beom;Shin, Jung-Hee;Lee, Chung-Choo
    • Environmental Mutagens and Carcinogens
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    • v.22 no.1
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    • pp.39-46
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    • 2002
  • Obesity is a complex metabolic disorder with a strong genetic component. There are many candidate genes for obesity and its related phenotypes. We studied genetic variations between Korean obese and lean groups. Polymorphisms investigated were the Msp I polymorphism of the $\alpha$$_{2A}$-adrenergic receptor ($\alpha$$_{2A}$-AR) gene, the Mnl I polymorphism of the $\alpha$$_2$-adrenergic receptor ($\alpha$$_2$-AR) gene, the BstO I polymorphism of the $\beta$$_3$-adrenergic receptor ($\beta$$_3$-AR) gene, the Pml I polymorphism of the lamin A/C (LMNA) gene, the Hga I polymorphism of the clearance receptor (NPRC) gene, the Msp I polymorphism of the leptin gene, BclI polymorphism of the uncoupling protein 1 (UCPI) gene and the Hha I polymorphism of the fatty acid binding protein 2 (FABP2) gene. Among these genetic markers, Pml I polymorphism at the LMNA gene and Bcl I polymorphism at the UCP1 gene were significantly associated with obesity. However, further studies are required whether thease findings are reproduced in large population, although two polymorphisms might be useful as genetic markers in the ethiology of obesity in Korean population.ion.

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Comparative Analysis of Genetic Relationships by Quantitative Characters and Their Characteristics in Germplasm of Panax ginseng C. A. Meyer Collected in Korea and China (한국과 중국 인삼자원들의 양적 형질 특성과 유전적 유연관계 분석)

  • Song, Beom Heon;Wu, Wen Guo;Kim, Do Hyun;Chung, Jong Wook
    • Korean Journal of Medicinal Crop Science
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    • v.25 no.6
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    • pp.381-388
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    • 2017
  • Background: This study was conducted to acquire basic information on the phenotypic and genotypic characteristics of the germplasm of Panax ginseng C. A. Meyer collected from China and Korea, and identify the variations that can be utilized in ginseng breeding programs. Methods and Results: Quantitative parameters were evaluated, and used to compare and analyze on genetic polymorphisms in the germplasm. The genetic characteristics and classifications were compared and analyzed for each character. Stem length followed a normal frequency distribution ranging from 15.5 cm to 40.5 cm, with showing approximately 40% having a stem length of 20 - 30 mm. Stem diameters ranged from 2.7 mm to 11.3 mm. Stem number per plant ranged from 1 to 3; approximately 50% had a single stem, and 45% had two stems. A non-normal frequency distribution was observed for petiole number, with approximately 60% of the germplasm having 3 - 5 petioles. Petiole length exhibited a normal frequency distribution, raging from 4.5 to 10.6. Petiole angle in the germplasm ranged from $28^{\circ}$ to $89^{\circ}$ and seedstalk length ranged from 5.6 cm to 27.3 cm. Conclusions: The genetic polymorphisms identified by complete linkage clustering based on the quantitative characteristics of Panax ginseng C. A. Meyer collected from Korea and China were classified to 6 groups, namely I, II, III, IV, V, and VI with frequencies of 6.7%, 20.0%, 31.7%, 8.3%, 6.7%, and 26.7%, respectively.

Analysis of genetic characteristics of pig breeds using information on single nucleotide polymorphisms

  • Lee, Sang-Min;Oh, Jae-Don;Park, Kyung-Do;Do, Kyoung-Tag
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.4
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    • pp.485-493
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    • 2019
  • Objective: This study was undertaken to investigate the genetic characteristics of Berkshire (BS), Landrace (LR), and Yorkshire (YS) pig breeds raised in the Great Grandparents pig farms using the single nucleotide polymorphisms (SNP) information. Methods: A total of 25,921 common SNP genotype markers in three pig breeds were used to estimate the expected heterozygosity ($H_E$), polymorphism information content, F-statistics ($F_{ST}$), linkage disequilibrium (LD) and effective population size ($N_e$). Results: The chromosome-wise distribution of $F_{ST}$ in BS, LR, and YS populations were within the range of 0-0.36, and the average $F_{ST}$ value was estimated to be $0.07{\pm}0.06$. This result indicated some level of genetic segregation. An average LD ($r^2$) for the BS, LR, and YS breeds was estimated to be approximately 0.41. This study also found an average $N_e$ of 19.9 (BS), 31.4 (LR), and 34.1 (YS) over the last 5th generations. The effective population size for the BS, LR, and YS breeds decreased at a consistent rate from 50th to 10th generations ago. With a relatively faster $N_e$ decline rate in the past 10th generations, there exists possible evidence for intensive selection practices in pigs in the recent past. Conclusion: To develop customized chips for the genomic selection of various breeds, it is important to select and utilize SNP based on the genetic characteristics of each breed. Since the improvement efficiency of breed pigs increases sharply by the population size, it is important to increase test units for the improvement and it is desirable to establish the pig improvement network system to expand the unit of breed pig improvement through the genetic connection among breed pig farms.

No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children

  • Bozdogan, Sevcan Tug;Kutuk, Meryem Ozlem;Tufan, Evren;Altintas, Zuhal;Temel, Gulhan Orekici;Toros, Fevziye
    • Clinical Psychopharmacology and Neuroscience
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    • v.16 no.4
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    • pp.415-421
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    • 2018
  • Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

Association Analysis between Chromogranin B Genetic Variations and Smooth Pursuit Eye Movement Abnormality in Korean Patients with Schizophrenia (한국인 조현병 환자에서 Chromogranin B 유전자와 안구운동 이상의 연합에 대한 연구)

  • Park, Jin Wan;Pak, Doo Hyun;Hwang, Min Gyu;Lee, Min Ji;Shin, Hyoung Doo;Shin, Tae-Min;Hahn, Sang Woo;Hwang, Jaeuk;Lee, Yeon Jung;Woo, Sung-Il
    • Korean Journal of Biological Psychiatry
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    • v.25 no.4
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    • pp.101-109
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    • 2018
  • Objectives According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. Some studies have linked the polymorphism in CHGB gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. Methods We measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. Results The natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). Conclusions Despite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.nwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. MethodsZZWe measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. ResultsZZThe natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). ConclusionsZZDespite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.

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Analysis of Microsatellite DNA Polymorphisms in Five China Native Cattle Breeds and Application to Population Genetics Studies

  • Jin, Hai-Guo;Zhao, Yu-Min;Zhou, Guo-li
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.12
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    • pp.1696-1700
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    • 2005
  • Five China native cattle breeds have been characterized by using 10 microsatellite DNA markers. The studied populations can be divided into five groups: Luxi cattle, Nanyang cattle, Jinnan cattle, Qinchuan cattle and Yanbian cattle. Allele frequencies were calculated and used for the characterization of the breeds and the study of their genetic relationships. Heterozygosity, polymorphism information content, the effective number of alleles was calculated. Nei' standard genetic distance (1978) was calculated and used for a neighbor-joining tree construction. NJ tree showed that Luxi cattle, Nanyang cattle, Jinnan cattle and Qinchuan cattle are closely related, whereas Yanbian cattle are clearly distinct from other four populations. The genetic relationship of five breeds corresponds to their history and geographic origins. This work analyzes the recent origin of these populations and contributes to the knowledge and genetic characterization of China native breeds.