• Title/Summary/Keyword: Polymorphism, genetic

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Analysis of genetic diversity and structure of Mongolian horse using microsatellite markers

  • Jehyun, An;Khaliunaa, Tseveen;Baatartsogt, Oyungerel;Hong Sik, Kong
    • Journal of Animal Science and Technology
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    • 제64권6호
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    • pp.1226-1236
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    • 2022
  • Mongolian horses are one of the oldest horse breeds, and are very important livestock in Mongolia as they are used in various fields such as transportation, food (milk, meat), and horse racing. In addition, research and preservation on pure Mongolian breeds are being promoted under the implementation of the new Genetics of Livestock Resources' act in Mongolia. However, despite the implementation of this act, genetic research on Mongolian horses using microsatellites (MS) has not progressed enough. Therefore, this study was conducted to analyze the genetic polymorphism of five breeds (Gobi shankh, Tes, Gal shar, Darkhad, and Undurshil) using 14 MS markers recommended by International Society for Animal Genetics (ISAG). The mean number of alleles (MNA) was 8.29, expected heterozygosity frequency (HExp) was 0.767, observed heterozygosity frequency (HObs) was 0.752, and polymorphism information content (PIC) was 0.729. The Nei's genetic distance analysis showed that the genetic distance between Gobi shankh and Darkhad horses was the farthest, and the other three breeds, Tes, Gal shar, and Undurshil were found to be close to each other. Similarly, the principal coordinate analysis (PCoA) and factorial correspondence analysis (FCA) showed that the Gobi shankh and Darkhad horses were genetically distinct from other breeds. On the other hand, it appears that Tes, Gal shar, and Undurshil horses, which are genetically similar, most likely interbred with each other. Therefore, it is expected that these results will help the conservation of genetic resources in Mongolia and the establishment of policies related to Mongolian horses.

Genetic Diversity among the Genera Allium in Mongolia Based on Random Amplified Polymorphic DNA (RAPD) Analysis

  • Chun, Jong-Un;Bae, Chang-Hyu
    • Plant Resources
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    • 제4권3호
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    • pp.121-129
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    • 2001
  • Intraspecific genetic diversity of sixteen accessions of Mogolian Alliums including fifteen species was investigated using randomly amplified polymorphic DNA (RAPD) analysis. Twenty three out of forty primers revealed scorable polymorphism. A total of 440 RAPD markers were generated on the 16 accessions of Mongolian Alliums. Among 440 RAPDs assayed, 439 were polymorphic with a mean polymorphic rate of 99.7%. Unweighted pair-group method using an arithmetic average (UPGMA) cluster analysis using RAPD data separated the 16 Allium accessions into two broad groups at similarity index 0.70. The clustering of the species was closely related with previous classification between A. altaicum and A. fistulosum. In addition, a high genetic similarity was showed between A. cepa and A. tagar.

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Association of rs1042522 Polymorphism with Increased Risk of Prostate Adenocarcinoma in the Pakistani Population and its HuGE Review

  • Khan, Mohammad Haroon;Rashid, Hamid;Mansoor, Qaiser;Hameed, Abdul;Ismail, Muhammad
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권9호
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    • pp.3973-3980
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    • 2014
  • Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). The present study was undertaken to explore the association of this SNP with susceptibility to prostate adenocarcinoma along with its structural and functional impacts in the Pakistani population in a case-control study. Three-dimensional structure of human TP53 with Pro72Arg polymorphism was predicted through homology modeling, refined and validated for detailed structure-based assessment. We also carried out a HuGE review of the previous available data for this polymorphism. Different genetic models were used to evaluate the genotypes association with the increased risk of PCa (Allelic contrast: OR=0.0.34, 95%CI 0.24-0.50, p=0.000; GG vs CC: OR=0.17, 95%CI 0.08-0.38, p=0.000; Homozygous: OR=0.08, 95%CI 0.04-0.15, p=0.000; GC vs CC: OR=2.14, 95%CI 1.01-4.51, p=0.046; Recessive model: OR=0.10, 95%CI 0.05-0.18, p=0.000; Log Additive: OR=3.54, 95%CI 2.13-5.89, p=0.000) except the Dominant model (OR=0.77, 95%CI 0.39-1.52, p=0.46). Structure and functional analysis revealed that the SNP in the proline rich domain is responsible for interaction with HRMT1L2 and WWOX. In conclusion, it was observed that the Arg coding G allele is highly associated with increased risk of prostate adenocarcinoma in the Pakistani population (p=0.000).

Genetic Polymorphism of Plasma Vitamin D-Binding Protein (Gc) in Some Asian Sheep

  • Tsunoda, K.;Doge, K.;Hasnath, M.A.;Rajbhandary, H.B.;Xu, W.;Zhanchiv, T.;Chau, B.L.
    • Asian-Australasian Journal of Animal Sciences
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    • 제11권3호
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    • pp.318-322
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    • 1998
  • Using polyacrylamide-gel isoelectric focusing followed by immunoblotting, genetic polymorphism of plasma vitamin D-binding protein (Gc) was examined in Asian sheep. The Gc polymorphism was revealed in the Khalkhas sheep of Mongolia, consisting of F, S and W variants, and the Yunnan native sheep of China, consisting of F and S variants. In particular, W was a new variant. The V variant detected in European sheep up to now was not observed in these sheep. The Bhyanglung, Baruwal, Kagi and Lampuchhre sheep of Nepal and local sheep of Bangladesh and Vietnam were monomorphic for the S variant. Family data and population genetic data supported the hypothesis that these variants were controlled by codominant alleles. In these Asian sheep, distribution of the $Gc^s$ allele was predominant (0.9571-1) and was seen as well in European sheep (Suffolk, Corriedale, Cheviot and Finnish Landrace) raised in Japan. $Gc^w$ allele was detected only in the Khalkhas sheep with the low frequency of 0.0025. The $Gc^v$ allele was detected in the Suffolk and Corriedale sheep (0.0080 and 0.0682), but not in any of the Asian sheep studied.

Single Nucleotide Polymorphism in Patients with Moyamoya Disease

  • Park, Young Seok
    • Journal of Korean Neurosurgical Society
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    • 제57권6호
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    • pp.422-427
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    • 2015
  • Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion.

Association Analysis between Insulin-like Growth Factor Binding Protein 3 (IGFBP3) Polymorphisms and Carcass Traits in Cattle

  • Cheong, Hyun Sub;Yoon, Du-Hak;Kim, Lyoung Hyo;Park, Byung Lae;Lee, Hye Won;Namgoong, Sohg;Kim, Eun Mi;Chung, Eui Ryong;Cheong, Il-Cheong;Shin, Hyoung Doo
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권3호
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    • pp.309-313
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    • 2008
  • The insulin-like growth factor binding protein 3 (IGFBP3) has been investigated as a candidate gene for growth promoting effects in beef cattle and a modulator of IGF bioactivity. Previously, we have reported twenty two sequence variants discovered in Korean native cattle (Hanwoo). In this study, we examined the association between gene-specific polymorphisms of IGFBP3 and cold carcass weight (CW) and marbling score (MS) among Korean native cattle. Among twenty two polymorphisms, four common polymorphic sites (-854G>C, -100G>A, +421G>T and +3863C>A) were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one common polymorphism in the promoter region (-854G>C) showed putative associations with MS (p = 0.03). IGFBP3 variation/haplotype information analyzed in this study will provide valuable information into strategies for the production of a commercial line of beef cattle.

Evaluating Genetic Diversity of Agaricus bisporus Accessions through Phylogenetic Analysis Using Single-Nucleotide Polymorphism (SNP) Markers

  • Oh, Youn-Lee;Choi, In-Geol;Kong, Won-Sik;Jang, Kab-Yeul;Oh, Min ji;Im, Ji-Hoon
    • Mycobiology
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    • 제49권1호
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    • pp.61-68
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    • 2021
  • Agaricus bisporus, commonly known as the button mushroom, is widely cultivated throughout the world. To breed new strains with more desirable traits and improved adaptability, diverse germplasm, including wild accessions, is a valuable genetic resource. To better understand the genetic diversity available in A. bisporus and identify previously unknown diversity within accessions, a phylogenetic analysis of 360 Agaricus spp. accessions using single-nucleotide polymorphism genotyping was performed. Genetic relationships were compared using principal coordinate analysis (PCoA) among accessions with known origins and accessions with limited collection data. The accessions clustered into four groups based on the PCoA with regard to genetic relationships. A subset of 67 strains, which comprised a core collection where repetitive and uninformative accessions were not included, clustered into 7 groups following analysis. Two of the 170 accessions with limited collection data were identified as wild germplasm. The core collection allowed for the accurate analysis of A. bisporus genetic relationships, and accessions with an unknown pedigree were effectively grouped, allowing for origin identification, by PCoA analysis in this study.

한국여성에서 자궁내막증의 발생위험도와 Catechol-O-Methyltransferase 유전자 다형성과의 관련성에 관한 연구 (Association of the COMT Gene Polymorphism with the Risk of Endometriosis in Korean Women)

  • 이사라;이소현;이운정;허성은;이지영;문혜성;정혜원
    • Clinical and Experimental Reproductive Medicine
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    • 제31권1호
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    • pp.51-57
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    • 2004
  • Objective: To investigate whether polymorphism of gene encoding COMT is associated with the risk of endometriosis in Korean women. Methods: We investigated 136 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 251 control group women who were surgically proven to have no endometriosis. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine each participant's COMT genotype. Results: The distribution according to NIaIII genetic polymorphisms of COMT were as follows. $COMT^{HH}$, $COMT^{HL}$, and $COMT^{LL}$ genotypes were 56.6% (77 women), 34.6% (47 women) and 8.8% (12 women) in the study group and 50.6% (127 women), 39.4% (99 women) and 10.0% (25 women) in the control group. There was no significant difference between the study group and the control group. Conclusion: The results suggest that COMT genetic polymorphism may not be associated with the development of endometriosis in Korean women.

ISSRs 마크에 의한 고려 인삼의 분자적 인증과 유전적 다형현상 (Molecular Authentication and Genetic Polymorphism of Korean Ginseng (Panax ginseng C. A. Meyer) by Inter-Simple Sequence Repeats (ISSRs) Markers)

  • Bang, Kyong-Hwan;Lee, Sung-Woo;Hyun, Dong-Yun;Cho, Joon-Hyeong;Cha, Seon-Woo;Seong, Nak-Sul;Huh, Man-Kyu
    • 생명과학회지
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    • 제14권3호
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    • pp.425-428
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    • 2004
  • ISSR마크를 사용하여 고려 인삼의 품종 및 계통간 분자적 인증과 유전적 다형현상을 조사하였다. 56개의 ISSR 프라이머 중 5개가 일곱 품종 및 계통간 명확하고 재현성이 높은 DNA분절을 나타내는 최적 프라이머로 선택되었다. 전체 43밴드는 250 bp - 1,700 bp의 분자량을 가지며 프라이머당 8.6개의 밴드를 나타내었다. 고려 인삼에서 다형현상 정도는 20.9%였다. 특히 천풍 품종이 가장 높은 다형현상을 나타낸 반면 다른 품종은 거의 다형현상을 나타내지 않았다. 결론적으로 DNA수준에서 ISSR마크로 천풍이 다른 고려 인삼의 품종 및 계통인 연풍, 황숙종, 자경종과 구분에 이용될 수 있음이 판명되었다.

Lack of Association between the COMT rs4680 Polymorphism and Ovarian Cancer Risk: Evidence from a Meta-analysis of 3,940 Individuals

  • Du, Jin-Ze;Dong, Yu-Ling;Wan, Guo-Xing;Tao, Lin;Lu, Li-Xia;Li, Feng;Pang, Li-Juan;Jia, Wei
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권18호
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    • pp.7941-7945
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    • 2014
  • Catechol-O-methyltransferase (COMT) is involved in estrogen metabolism and is vital to estrogen-induced carcinogenesis, including that of ovarian cancer. Although many recent epidemiologic studies have investigated associations between the COMT rs4680 polymorphism and ovarian cancer risk, the results remain inconclusive. We therefore performed a meta-analysis to derive a more precise estimate of associations. Systematic searches of the PubMed, Embase, Web of Science, Cochrane Library, Wanfang, China National Knowledge Infrastructure, and Chinese Biomedicine databases were undertaken to retrieve eligible studies. Odds ratios (ORs) with their corresponding 95% confidence intervals (CIs) were pooled to assess the strength of the association. In total, 8 case-control studies involving 1,293 cases and 2,647 controls were included in the meta-analysis. Overall, the results showed no evidence of significant association between the COMT rs4680 polymorphism and ovarian cancer risk in any of the assessed genetic models. Subgroup analyses by ethnicity also did not reveal any significant association in any genetic model (p>0.05). In conclusion, our findings suggest that the COMT rs4680 polymorphism may not contribute to the risk of ovarian cancer.