• Title/Summary/Keyword: Microsatellite Markers

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Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas

  • Murano, Akiyuki;Ono, Kanae;Koike, Hirofumi;Endo, Yosuke;Shimada, Ken;Kawasaki, Kenshi;Nomura, Hitomi;Shiiba, Masashi;Uzawa, Katsuhiro;Tanzawa, Hideki
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.38 no.2
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    • pp.121-126
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    • 2012
  • Aberrations on the short arm of chromosome 8 (8p) are frequently observed in several human cancers. In this study, 20 squamous cell carcinoma (SCC) specimens from the tongue were examined in order to evaluate the role of 8p in SCC of the tongue. Microsatellite analysis using 14 markers demonstrated two commonly deleted regions (CDRs) on 8p. Reverse transcription-polymerase chain reaction (RT-PCR) revealed frequent down-regulation of the FEZ1 gene, mapped to 8p22, and frequent over-expression of the cathepsin B gene, mapped to 8p-21-22. These results suggested that genetic aberrations are involved in the development of SCC of the tongue. However, no significant relationship was observed to be established between the genetic alterations and clinicopathological features. Thus, further investigation is necessary in order to clarify the clinical role of 8p in carcinoma of the tongue.

Isolation and characterization of micro satellite loci in the Korean crayfish, Cambaroides similis and application to natural population analysis

  • Ahn, Dong-Ha;Park, Mi-Hyun;Jung, Jae-Ho;Oh, Mi-Jin;Kim, Sang-Hee;Jung, Jong-Woo;Min, Gi-Sik
    • Animal cells and systems
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    • v.15 no.1
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    • pp.37-43
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    • 2011
  • The Korean freshwater crayfish, Cambaroides similis, has recently suffered from range reduction and habitat degradation caused by environmental changes and water pollution. For the conservation and restoration of this species, it is necessary to understand the current population structures of Korean C. similis using estimation of their genetic variation. In this study, eight micro satellite loci were developed and characterized from 49 individuals collected from four locations: one population from Mt. Bukhan (BH) and three populations from Mt. Gwanak (GA) in Seoul, Korea. As a result, the number of alleles per locus ranged from 2 to 12. The observed heterozygosities and expected heterozygosities ranged from 0.000 to 0.833 and from 0.125 to 0.943, respectively, and the former values were significantly lower than the latter ones expected under the Hardy-Weinberg equilibrium. No significant linkage disequilibrium was revealed between any of the locus pairs after Bonferroni correction. From the pairwise Fst results over all samples, higher differentiation between GA-BH population pairs (mean 0.1789) was observed than between GA population pairs (mean 0.0454). This was also supported by Mantel's test showing that the genetic distances of these crayfish populations were significantly correlated with geographic distances. This result may show the regional differentiation caused by restricted gene flow between northern (BH) and southern (GA) populations within Seoul. These micro satellite markers have the potential for use in analyses of the genetic diversity and population structure of C. similis species, with implications for its conservation and management plans.

Retrotransposon Microsatellite Amplified Polymorphism Strain Fingerprinting Markers Applicable to Various Mushroom Species

  • Le, Quy Vang;Won, Hyo-Kyung;Lee, Tae-Soo;Lee, Chang-Yun;Lee, Hyun-Sook;Ro, Hyeon-Su
    • Mycobiology
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    • v.36 no.3
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    • pp.161-166
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    • 2008
  • The retrotransposon marY1 is a gypsy family retroelement, which is detected ubiquitously within the fungal taxonomic groups in which mushrooms are included. To utilize marY1 as a molecular marker for the DNA fingerprinting of mushrooms, oligonucleotides marY1-LTR-L and marY1-LTR-R were designed on the basis of highly conserved regions from the multiple sequence alignment of 30 marY1 sequences retrieved from a nucleotide sequence database. In accordance with $\underline{Re}trotransposon$ $\underline{M}icrosatellite$ $\underline{A}mplified$ $\underline{P}olymorphism$ (REMAP) fingerprinting methodology, the two oligonucleotides were utilized together with the short sequence repeat primers UBC807 and UBC818 for polymerase chain reaction using templates from different mushroom genomic DNAs. Among the tested oligonucleotides, the marY1-LTR-L and UBC807 primer set yielded the greatest amount of abundance and variation in terms of DNA band numbers and patterns. This method was successfully applied to 10 mushroom species, and the primer set successfully discriminated between different commercial mushroom cultivars of the same strains of 14 Pleurotus ostreatus and 16 P. eryngii. REMAP reproducibility was superior to other popular DNA fingerprinting methodologies including the random amplified polymorphic DNA method.

Factors Affecting the Vineyard Populational Diversity of Plasmopara viticola

  • Boso, Susana;Gago, Pilar;Santiago, Jose-Luis;de la Fuente, Maria;Martinez, Maria-Carmen
    • The Plant Pathology Journal
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    • v.35 no.2
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    • pp.125-136
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    • 2019
  • Vitis vinifera is very susceptible to downy mildew (Plasmopara viticola). A number of authors have suggested different genetic populations of this fungus exist in Europe, each showing a different degree of virulence. Work performed to date indicates this diversity to be the result of different factors. In areas where gene flow is greater and recombination more frequent, the diversity of P. viticola appears to be wider. In vineyards isolated by geographic barriers, a race may become dominant and produce clonal epidemics driven by asexual reproduction. The aim of the present work was to identify the conditions that influence the genetic diversity of P. viticola populations in the vineyards of northwestern Spain, where the climatic conditions for the growth of this fungus are very good. Vineyards situated in a closed, narrow valley of the interior, in more open valleys, and on the coast were sampled and the populations of P. viticola detected were differentiated at the molecular level through the examination of microsatellite markers. The populations of P. viticola represented in primary and secondary infections were investigated in the same way. The concentration of airborne sporangia in the vegetative cycle was also examined, as was the virulence of the different P. viticola populations detected. The epidemiological characteristics of the fungus differed depending on the degree of isolation of the vineyard, the airborne spore concentration, and on whether the attack was primary or secondary. Strong isolation was associated with the appearance of dominant fungal races and, therefore, reduced populational diversity.

Mining and analysis of microsatellites in human coronavirus genomes using the in-house built Java pipeline

  • Umang, Umang;Bharti, Pawan Kumar;Husain, Akhtar
    • Genomics & Informatics
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    • v.20 no.3
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    • pp.35.1-35.9
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    • 2022
  • Microsatellites or simple sequence repeats are motifs of 1 to 6 nucleotides in length present in both coding and non-coding regions of DNA. These are found widely distributed in the whole genome of prokaryotes, eukaryotes, bacteria, and viruses and are used as molecular markers in studying DNA variations, gene regulation, genetic diversity and evolutionary studies, etc. However, in vitro microsatellite identification proves to be time-consuming and expensive. Therefore, the present research has been focused on using an in-house built java pipeline to identify, analyse, design primers and find related statistics of perfect and compound microsatellites in the seven complete genome sequences of coronavirus, including the genome of coronavirus disease 2019, where the host is Homo sapiens. Based on search criteria among seven genomic sequences, it was revealed that the total number of perfect simple sequence repeats (SSRs) found to be in the range of 76 to 118 and compound SSRs from 01 to10, thus reflecting the low conversion of perfect simple sequence to compound repeats. Furthermore, the incidence of SSRs was insignificant but positively correlated with genome size (R2 = 0.45, p > 0.05), with simple sequence repeats relative abundance (R2 = 0.18, p > 0.05) and relative density (R2 = 0.23, p > 0.05). Dinucleotide repeats were the most abundant in the coding region of the genome, followed by tri, mono, and tetra. This comparative study would help us understand the evolutionary relationship, genetic diversity, and hypervariability in minimal time and cost.

Application of genomic big data to analyze the genetic diversity and population structure of Korean domestic chickens

  • Eunjin Cho;Minjun Kim;Jae-Hwan Kim;Hee-Jong Roh;Seung Chang Kim;Dae-Hyeok Jin;Dae Cheol Kim;Jun Heon Lee
    • Journal of Animal Science and Technology
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    • v.65 no.5
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    • pp.912-921
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    • 2023
  • Genetic diversity analysis is crucial for maintaining and managing genetic resources. Several studies have examined the genetic diversity of Korean domestic chicken (KDC) populations using microsatellite markers, but it is difficult to capture the characteristics of the whole genome in this manner. Hence, this study analyzed the genetic diversity of several KDC populations using high-density single nucleotide polymorphism (SNP) genotype data. We examined 935 birds from 21 KDC populations, including indigenous and adapted Korean native chicken (KNC), Hyunin and Jeju KDC, and Hanhyup commercial KDC populations. A total of 212,420 SNPs of 21 KDC populations were used for calculating genetic distances and fixation index, and for ADMIXTURE analysis. As a result of the analysis, the indigenous KNC groups were genetically closer and more fixed than the other groups. Furthermore, Hyunin and Jeju KDC were similar to the indigenous KNC. In comparison, adapted KNC and Hanhyup KDC populations derived from the same original species were genetically close to each other, but had different genetic structures from the others. In conclusion, this study suggests that continuous evaluation and management are required to prevent a loss of genetic diversity in each group. Basic genetic information is provided that can be used to improve breeds quickly by utilizing the various characteristics of native chickens.

Genetic diversity and phylogenetic relationship of Angus herds in Hungary and analyses of their production traits

  • Judit Marton;Ferenc Szabo;Attila Zsolnai;Istvan Anton
    • Animal Bioscience
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    • v.37 no.2
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    • pp.184-192
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    • 2024
  • Objective: This study aims to investigate the genetic structure and characteristics of the Angus cattle population in Hungary. The survey was performed with the assistance of the Hungarian Hereford, Angus, Galloway Association (HHAGA). Methods: Genetic parameters of 1,369 animals from 16 Angus herds were analyzed using the genotyping results of 12 microsatellite markers with the aid of PowerMarker, Genalex, GDA-NT2021, and STRUCTURE software. Genotyping of DNA was performed using an automated genetic analyzer. Based on pairwise identity by state values of animals, the Python networkx 2.3 library was used for network analysis of the breed and to identify the central animals. Results: The observed numbers of alleles on the 12 loci under investigation ranged from 11 to 18. The average effective number of alleles was 3.201. The overall expected heterozygosity was 0.659 and the observed heterozygosity was 0.710. Four groups were detected among the 16 Angus herds. The breeders' information validated the grouping results and facilitated the comparison of birth weight, age at first calving, number of calves born and productive lifespan data between the four groups, revealing significant differences. We identified the central animals/herd of the Angus population in Hungary. The match of our group descriptions with the phenotypic data provided by the breeders further underscores the value of cooperation between breeders and researchers. Conclusion: The observation that significant differences in the measured traits occurred among the identified groups paves the way to further enhancement of breeding efficiency. Our findings have the potential to aid the development of new breeding strategies and help breeders keep the Angus populations in Hungary under genetic supervision. Based on our results the efficient use of an upcoming genomic selection can, in some cases, significantly improve birth weight, age at first calving, number of calves born and the productive lifespan of animals.

Studies on the Small Body Size Mouse Developed by Mutagen N-Ethyl-N-nitrosourea

  • Zhang, Qian-Kun;Cho, Kyu-Hyuk;Cho, Jae-Woo;Cha, Dal-Sun;Park, Han-Jin;Yoon, Seok-Joo;Zhang, ShouFa;Song, Chang-Woo
    • Toxicological Research
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    • v.24 no.1
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    • pp.69-78
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    • 2008
  • Mutant mouse which show dwarfism has been developed by N-ethyl-N-nitrosourea (ENU) mutagenesis using BALB/c mice. The mutant mouse was inherited as autosomal recessive trait and named Small Body Size (SBS) mouse. The phenotype of SBS mouse was not apparent at birth, but it was possible to distinguish mutant phenotype from normal mice 1 week after birth. In this study, we examined body weight changes and bone mineral density (BMD), and we also carried out genetic linkage analysis to map the causative gene(s) of SBS mouse. Body weight changes were observed from birth to 14 weeks of age in both affected (n = 30) and normal mice (n = 24). BMD was examined in each five SBS and normal mice between 3 and 6 weeks of age, respectively. For the linkage analysis, we produced backcross progeny [(SBS${\times}$C57BL/6J) $F_1{\times}$ SBS] $N_2$ mice (n = 142), and seventy-four microsatellite markers were used for primary linkage analysis. Body weight of affected mice was consistently lower than that of the normal mice, and was 43.7% less than that of normal mice at 3 weeks of age (P < 0.001). As compared with normal mice at 3 and 6 weeks of age, BMD of the SBS mice was significantly low. The results showed 15.5% and 14.1 % lower in total body BMD, 15.3% and 8.7% lower in forearm BMD, and 29.7% and 20.1% lower in femur BMD, respectively. The causative gene was mapped on chromosome 10. The map order and the distance between markers were D10Mit248 - 2.1 cM - D10Mit51 - 4.2 cM - sbs - 0.7 cM - D10Mit283 - 1.4cM - D10Mit106 - 11.2cM - D10Mit170.

Distinct Involvement of 9p21-24 and 13q14.1-14.3 Chromosomal Regions in Raw Betel-Nut Induced Esophageal Cancers in the State of Meghalaya, India

  • Rai, Avdhesh K.;Freddy, Allen J.;Banerjee, Atanu;Kurkalang, Sillarine;Rangad, Gordon M.;Islam, Mohammad;Nongrum, Henry B.;Dkhar, Hughbert;Chatterjee, Anupam
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.6
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    • pp.2629-2633
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    • 2012
  • Background: Raw betel nut (RBN) chewing is an important contributing factor for esophageal squamous cell carcinoma (ESCC), although associated genomic changes remain unclear. One difficulty in assessing the effects of exclusively RBN induced genetic alterations has been that earlier studies were performed with samples of patients commonly using tobacco and alcohol, in addition to betel-quid. Both CDKN2A (at 9p21) and Rb1 gene (at 13q14.2) are regarded as tumor suppressors involved in the development of ESCC. Therefore, the present study aimed to verify the RBN's ability to induce ESCC and assess the involvement of CDKN2A and Rb1 genes. Methods: A panel of dinucelotide polymorphic markers were chosen for loss of heterozygosity studies in 93 samples of which 34 were collected from patients with only RBN-chewing habit. Promoter hypermethylation was also investigated. Results: Loss in microsatellite markers D9S1748 and D9S1749, located close to exon $1{\beta}$ of CDKN2A/ARF gene at 9p21, was noted in 40% ESCC samples with the habit of RBN-chewing alone. Involvement of a novel site in the 9p23 region was also observed. Promoter hypermethylation of CDKN2A gene in the samples with the habit of only RBN-chewing alone was significantly higher (p=0.01) than Rb1 gene, also from the samples having the habit of use both RBN and tobacco (p=0.047). Conclusions: The data indicate that the disruption of 9p21 where CDKN2A gene resides, is the most frequent critical genetic event in RBN-associated carcinogenesis. The involvement of 9p23 as well as 13q14.2 could be required in later stages in RBN-mediated carcinogenesis.

Determination and Application of Combined Genotype of Simple Sequence Repeats (SSR) DNA Marker for Cultivars of Cymbidium goeringii (춘란(Cymbidium goeringii) 품종에 대한 Simple Sequence Repeats (SSR) DNA 마커의 복합 유전자형 결정과 적용)

  • Lee, Dae-Gun;Koh, Jae-Chul;Chung, Ki-Wha
    • Horticultural Science & Technology
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    • v.30 no.3
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    • pp.278-285
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    • 2012
  • Cymbidium goeringii is one of the most important and popular species in the orchid family in north-east Asia. In the present study, we prepared multiplex PCR system, and used it for the genotyping of eight simple sequence repeats (SSR) markers (CG409, CG415, CG709, CG722, CG787, CG1023, CG1210, and CG1281) in subject with 40 samples of cultivated varieties. All the analyzed samples showed different combined genotypes. The average combined power of discrimination was very high value of $7.14{\times}10^{-10}$, and observed heterozygosity (Ho = 0.466) was similar with two wild populations of C. goeringii, which may indicate no or little occurrence of genetic change after collection from wild habitats. The present study also developed a two-dimensional barcode to express information of genotype results of eight SSR markers (SSR DNA ID). The discrimination power of DNA ID between two individuals will be statistically more than 99.999999%. The SSR DNA ID and two-dimensional barcode may be very usefully applied for the discrimination and maintence of cultivars of C. goeringii.