• Title/Summary/Keyword: specific allele

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Genotype Analysis of the Major Histocompatibility Complex Region in Korean Native Chicken (한국 재래닭의 MHC 영역 유전자형 분석)

  • Jung, Kie-Chul;Hoque, Md. Rashedul;Seo, Dong-Won;Park, Byung-Kwon;Choi, Kang-Duk;Lee, Jun-Heon
    • Korean Journal of Poultry Science
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    • v.36 no.4
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    • pp.317-322
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    • 2009
  • The chicken major histocompatibility complex (MHC) is known to be associated with disease resistance and susceptibility to several pathogens. The microsatellite marker LEI0258 is physically located between the BG and BF of MHC region and variations near this marker have been well documented. In this report, the LEI0258 marker was used to find specific alleles for the Korean native chicken. The MHC haplotype was analyzed by PCR screening and sequencing of LEI0258 region in four different breeds including black Korean native chicken, brown Korean native chicken, Cornish and Rhode island red. The serologically same MHC haplotypes showed the differences in repeat numbers, a few indels or single nucleotide polymorphisms by sequencing analysis. Even though we could not identify specific alleles for Korean native chickens, the genotypes analyzed in these breeds can give valuable information for the relationships with disease resistance and establishment of breeding strategies for the Korean native chicken.

Promoter Methylation Status of Two Novel Human Genes, UBE2Q1 and UBE2Q2, in Colorectal Cancer: a New Finding in Iranian Patients

  • Mokarram, Pooneh;Shakiba-Jam, Fatemeh;Kavousipour, Soudabeh;Sarabi, Mostafa Moradi;Seghatoleslam, Atefeh
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.18
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    • pp.8247-8252
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    • 2016
  • Background: The ubiquitin-proteasome system (UPS) degrades a variety of proteins which attach to specific signals. The ubiquitination pathway facilitates degradation of damaged proteins and regulates growth and stress responses. This pathway is altered in various cancers, including acute lymphoblastic leukemia, head and neck squamous cell carcinoma and breast cancer. Recently it has been reported that expression of newly characterized human genes, UBE2Q1 and UBE2Q2, putative members of ubiquitin-conjugating enzyme family (E2), has been also changed in colorectal cancer. Epigenetics is one of the fastest-growing areas of science and nowadays has become a central issue in biological studies of diseases. According to the lack of information about the role of epigenetic changes on gene expression profiling of UBE2Q1 and UBE2Q2, and the presence of CpG islands in the promoter of these two human genes, we decided to evaluate the promoter methylation status of these genes as a first step. Materials and Methods: The promoter methylation status of UBE2Q1 and UBE2Q2 was studied by methylation-specific PCR (MSP) in tumor samples of 60 colorectal cancer patients compared to adjacent normal tissues and 20 non-malignant controls. The frequency of the methylation for each gene was analyzed by chi-square method. Results: MSP results revealed that UBE2Q2 gene promoter were more unmethylated, while a higher level of methylated allele was observed for UBE2Q1 in tumor tissues compared to the adjacent normal tissues and the non malignant controls. Conclusions: UBE2Q1 and UBE2Q2 genes show different methylation profiles in CRC cases.

Association of Genetic Variants in ARID5B, IKZF1 and CEBPE with Risk of Childhood de novo B-Lineage Acute Lymphoblastic Leukemia in India

  • Bhandari, Prerana;Ahmad, Firoz;Mandava, Swarna;Das, Bibhu Ranjan
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.3989-3995
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    • 2016
  • Background: Childhood acute lymphoblastic leukemia (ALL) is a heterogeneous genetic disease and its etiology remains poorly understood. Recent genome wide association and replication studies have highlighted specific polymorphisms contributing to childhood ALL predispositions mostly in European populations. It is unclear if these observations generalize to other populations with a lower incidence of ALL. The current case-control study evaluated variants in ARID5B (rs7089424, rs10821936), IKZF1 (rs4132601) and CEBPE (rs2239633) genes, which appear most significantly associated with risk of developing childhood B-lineage ALL. Materials and Methods: Using TaqMan assays, genotyping was conducted for 162 de novo B-lineage ALL cases and 150 unrelated healthy controls in India. Appropriate statistical methods were applied. Results: Genotypic and allelic frequencies differed significantly between cases and controls at IKZF1-rs4132601 (p=0.039, p=0.015) and ARID5B-rs10821936 (p=0.028, p=0.026). Both rs10821936 (p=0.019; OR 0.67; 95% CI=0.47-0.94) and rs4132601 (p=0.018; OR 0.67; 95%CI 0.48-0.94) were associated with reduced disease risk. Moreover, gender-analysis revealed male-specific risk associations for rs10821936 (p=0.041 CT+CC) and rs4132601 (p=0.005 G allele). Further, ARID5B-rs7089424 and CEBPE-rs2239633 showed a trend towards decreased disease risk but without significance (p=0.073; p=0.73). Conclusions: Our findings provide the first evidence that SNPs ARID5B-rs10821936 and IKZF1-rs4132601 are associated with decreased B-lineage ALL susceptibility in Indian children. Understanding the effects of these variants in different ethnic groups is crucial as they may confer different risk of ALL within different populations.

Plasmodium falciparum Genotype Diversity in Artemisinin Derivatives Treatment Failure Patients along the Thai-Myanmar Border

  • Congpuong, Kanungnit;Hoonchaiyapoom, Thirasak;Inorn, Kornnarin
    • Parasites, Hosts and Diseases
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    • v.52 no.6
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    • pp.631-637
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    • 2014
  • Genetic characteristics of Plasmodium falciparum may play a role in the treatment outcome of malaria infection. We have studied the association between diversity at the merozoite surface protein-1 (msp-1), msp-2, and glutamate-rich protein (glurp) loci and the treatment outcome of uncomplicated falciparum malaria patients along the Thai-Myanmar border who were treated with artemisinin derivatives combination therapy. P. falciparum isolates were collected prior to treatment from 3 groups of patients; 50 cases of treatment failures, 50 recrudescences, and 56 successful treatments. Genotyping of the 3 polymorphic markers was analyzed by nested PCR. The distribution of msp-1 alleles was significantly different among the 3 groups of patients but not the msp-2 and glurp alleles. The allelic frequencies of K1 and MAD20 alleles of msp1 gene were higher while RO33 allele was significantly lower in the successful treatment group. Treatment failure samples had a higher median number of alleles as compared to the successful treatment group. Specific genotypes of msp-1, msp-2, and glurp were significantly associated with the treatment outcomes. Three allelic size variants were significantly higher among the isolates from the treatment failure groups, i.e., $K1_{270-290}$, $3D7_{610-630}$, $G_{650-690}$, while 2 variants, $K1_{150-170}$, and $3D7_{670-690}$ were significantly lower. In conclusion, the present study reports the differences in multiplicity of infection and distribution of specific alleles of msp-1, msp-2, and glurp genes in P. falciparum isolates obtained from treatment failure and successful treatment patients following artemisinin derivatives combination therapy.

Genetic Diversity Assessment and Phylogenetic Analysis of Peanut (Arachis hypogaea L.) in RDA Genebank Collection using SSRs

  • Yi, Jung-Yoon;Lee, Gi-An;Lee, Jeong-Ran;Lee, Myung-Chul;Kang, Man-Jung;Baek, Hyung-Jin;Kim, Chung-Kon
    • Korean Journal of Plant Resources
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    • v.24 no.3
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    • pp.272-279
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    • 2011
  • It is very crucial to evaluate the genetic diversity of peanut genetic resources for identification of peanut germplasm accessions and variety improvement. Cultivated peanut generally has two subspecies, hypogaea and fastigiata. In this study, we identified peanut into three plant types, virginia (var. hypogaea), spanish (var. vulgaris), and valencia (var. fastigiata). Former one belongs to ssp. hypogaea and latter two are involved in ssp. fastigiata. Twenty SSR markers were used to assess the genetic variation of three sets, hypogaea, vulgaris, and fastigiata, respectively. Out of variety-specific SSR primers tried in this study, ten pairs of SSR primers showed polymorphisms. Each accession could be identified by a specific set of polymorphic SSR primers, and allele number was evaluated among accessions, with an average of 6.7 in var. hypogaea and 5.4 in var. vulgaris and fastigiata. For evaluation of genetic diversity, gene diversity ranged from 0.336 to 0.844 and PIC (polymorphism information contents) ranged from 0.324 to 0.827 were investigated. Dendrograms based on genetic distances were constructed, which showed the existence of three different clusters. And these three different clusters might be associated with the genes involved in three plant types. The results also suggested that there were plentiful SSR polymorphisms among peanut germplasm accessions in RDA (Rural Development Administration, Korea) Genebank and SSRs might play an important role in evaluating peanut accessions and cultivar improvement.

Discrimination of Korean ginseng (Panax ginseng Meyer) cultivar Chunpoong and American ginseng (Panax quinquefolius) using the auxin repressed protein gene

  • Kim, Jong-Hak;Kim, Min-Kyeoung;Wang, Hongtao;Lee, Hee-Nyeong;Jin, Chi-Gyu;Kwon, Woo-Saeng;Yang, Deok-Chun
    • Journal of Ginseng Research
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    • v.40 no.4
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    • pp.395-399
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    • 2016
  • Background: Korean ginseng (Panax ginseng) is one of the most important medicinal plants in the Orient. Among nine cultivars of P. ginseng, Chunpoong commands a much greater market value and has been planted widely in Korea. Chunpoong has superior quality "Chunsam" ($1^{st}$ grade ginseng) when made into red ginseng. Methods: A rapid and reliable method for discriminating the Chunpoong cultivar was developed by exploiting a single nucleotide polymorphism (SNP) in the auxin repressed protein gene of nine Korean ginseng cultivars using specific primers. Results: An SNP was detected between Chunpoong and other cultivars, and modified allele-specific primers were designed from this SNP site to specifically identify the Chunpoong cultivar and P. quinquefolius via multiplex polymerase chain reaction (PCR). Conclusion: These results suggest that great impact to prevent authentication of precise Chunpoong and other cultivars using the auxin repressed protein gene. We therefore present an effective method for the authentication of the Chunpoong cultivar of P. ginseng and P. quinquefolius.

Microsatellite Analysis of the Silkworm Strains (Bombyx mori) Originated from China

  • Kim, Kee-Young;Kang, Pil-Don;Ryu, Kang-Sun;Kim, Ki-Hwan;Sung, Gyoo-Byung;Ji, Sang-Deok;Kim, Mi-Ja;Kim, Ik-Soo
    • International Journal of Industrial Entomology and Biomaterials
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    • v.25 no.1
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    • pp.81-92
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    • 2012
  • A total of 85 Chinese-origin silkworm strains preserved in Korea were genotyped for eight polymorphic micro-satellite loci. We obtained per-locus number of alleles, ranging from 5 to 14 with an average value of 9.5, perlocus observed heterozygosity, ranging from 0.07 to 0.99, and per-locus polymorphic information content (PIC), ranging from 0.34 to 0.82, indicating that some loci are highly variable. Phylogenetic analysis with the eight concatenated microsatellite loci showed no clustering on the basis of known strain characteristics. A total of 22 strain-specific apomorphic alleles, which discriminate 19 among 85 silkworm strains were obtained from eight loci. These strain-specific alleles, thus, can casually be utilized for the discrimination of applicable strains without any further typing of other loci. Furthermore, a substantial number of homozygote strains, represented by 27 among 76 alleles in eight loci were found. These results collectively suggest that the silkworm microsatellite DNA is actually and potentially important molecular markers for the eventual discrimination of silkworm strains that are preserved as hundreds in Korea.

Development of a single-nucleotide-polymorphism marker for specific authentication of Korean ginseng (Panax ginseng Meyer) new cultivar "G-1"

  • Yang, Dong-Uk;Kim, Min-Kyeoung;Mohanan, Padmanaban;Mathiyalagan, Ramya;Seo, Kwang-Hoon;Kwon, Woo-Saeng;Yang, Deok-Chun
    • Journal of Ginseng Research
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    • v.41 no.1
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    • pp.31-35
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    • 2017
  • Background: Korean ginseng (Panax ginseng) is a well-known medicinal plant of Oriental medicine that is still in practice today. Until now, a total of 11 Korean ginseng cultivars with unique features to Korean ginseng have been developed based on the pure-line-selection method. Among them, a new cultivar namely G-1 with different agricultural traits related to yield and content of ginsenosides, was developed in 2012. Methods: The aim of this study was to distinguish the new ginseng cultivar G-1 by identifying the unique single-nucleotide polymorphism (SNP) at its 45S ribosomal DNA and Panax quinquefolius region than other Korean ginseng cultivars using multiplex amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR). Results: A SNP at position of 45S ribosomal DNA region between G-1, P. quinquefolius, and the other Korean ginseng cultivars was identified. By designing modified allele-specific primers based on this site, we could specifically identified G-1 and P. quinquefolius via multiplex PCR. The unique primer for the SNP yielded an amplicon of size 449 bp in G-1 cultivar and P. quinquefolius. This study presents an effective method for the genetic identification of the G-1 cultivar and P. quinquefolius. Conclusion: The results from our study shows that this SNP-based approach to identify the G-1 cultivar will be a good way to distinguish accurately the G-1 cultivar and P. quinquefolius from other Korean ginseng cultivars using a SNP at 45S ribosomal DNA region.

Method Discrimination for Product Traceability and Identification of Korean Native Chicken using Microsatellite DNA (초위성체를 이용한 한국 재래닭의 원산지 추적 및 개체 식별 방법에 관한 연구)

  • Park, Mi-Hyun;Oh, Jae-Don;Jeon, Gwang-Joo;Kong, Hong-Sik;Sang, Byong-Don;Choi, Chull-Hwan;Yeon, Sung-Hum;Cho, Byong-Wok;Lee, Hak-Kyu
    • Korean Journal of Organic Agriculture
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    • v.12 no.4
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    • pp.451-461
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    • 2004
  • In an animals, identification system has been widely used by ear tag with dummy code and blood typing for parernity. Also, genotyping methods were using for useful mean of individual identification for live animals. In the case of genotyping estimation of gene in population of korean native chicken. In this study, we tested for development of genetic markers used it possible to determination of individual identification system. The candidate genetic markers were used already bow 10 of microstalite DNA sequence information in chromosome No. 1 and 14. Result of analysis for genotyping, the number of alleles of those microstatelites DNA was shown minimal 3 to 12 and the heterozygote expression frequency range was shown from 0.617 to 0.862. In our result, effective number of allele for each microsatellites DNA was shown 3~7, and the accuracy of individual identification was shown nearly 100%, when used with 6 genetic marker. This study was about genotyping method for identification used specific genetic marker form microsatellite DNA in the brand marketing of korean native chicken. Our results suggest that genotyping method used specific genetic marker from microsatellite DNA might be very useful for determination of individual identification.

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Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation

  • Park, Sang-Wook;Do, Hyo-Sang;Kim, Dongkyu;Ko, Ji-Yun;Lee, Sang-Hun;Han, Yong-Mahn
    • International Journal of Stem Cells
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    • v.7 no.2
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    • pp.108-117
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    • 2014
  • Background and Objectives: Genomic imprinting is an inheritance phenomenon by which a subset of genes are expressed from one allele of two homologous chromosomes in a parent of origin-specific manner. Even though fine-tuned regulation of genomic imprinting process is essential for normal development, no other means are available to study genomic imprinting in human during embryonic development. In relation with this bottleneck, differentiation of human embryonic stem cells (hESCs) into specialized lineages may be considered as an alternative to mimic human development. Methods and Results: In this study, hESCs were differentiated into three lineage cell types to analyze temporal and spatial expression of imprinted genes. Of 19 imprinted genes examined, 15 imprinted genes showed similar transcriptional level among two hESC lines and two human induced pluripotent stem cell (hiPSC) lines. Expressional patterns of most imprinted genes were varied in progenitors and fully differentiated cells which were derived from hESCs. Also, no consistence was observed in the expression pattern of imprinted genes within an imprinting domain during in vitro differentiation of hESCs into three lineage cell types. Conclusions: Transcriptional expression of imprinted genes is regulated in a cell type- specific manner in hESCs during in vitro differentiation.