• Title/Summary/Keyword: Polymorphism chromosome

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A Case of Multiple Congenital Anomalies due to Polymorphism of Chromosome 13 (13번 염색체다형성에 기인된 다발성선천성기형증 1례 보고와 고찰)

  • Kim, Yoon-Sik
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.2
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    • pp.63-67
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    • 2007
  • A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

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Investigation of Single Nucleotide Polymorphisms in Porcine Chromosome 2 Quantitative Trait Loci for Meat Quality Traits

  • Do, K.T.;Ha, Y.;Mote, B.E.;Rothschild, M.F.;Choi, B.H.;Lee, S.S.;Kim, T.H.;Cho, B.W.;Kim, K.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.2
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    • pp.155-160
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    • 2008
  • Several studies have reported quantitative trait loci (QTL) for meat quality on porcine chromosome 2 (http://www.animalgenome.org/QTLdb/pig.html). For application of the molecular genetic information to the pig industry through marker-assisted selection, single nucleotide polymorphism (SNP) markers were analyzed by comparative re-sequencing of polymerase chain reaction (PCR) products of 13 candidate genes with DNA from commercial pig breeds such as Berkshire, Yorkshire, Landrace, Duroc and Korean Native pig. A total of 34 SNPs were identified in 15 PCR products producing an average of one SNP in every 253 bp. PCR restriction fragment length polymorphism (RFLP) assays were developed for 11 SNPs and used to investigate allele frequencies in five commercial pig breeds in Korea. Eight of the SNPs appear to be fixed in at least one of the five pig breeds, which indicates that different selection among pig breeds might be applied to these SNPs. Polymorphisms detected in the PTH, CSF2 and FOLR genes were chosen to genotype a Berkshire-Yorkshire pig breed reference family for linkage and association analyses. Using linkage analysis, PTH and CSF2 loci were mapped to pig chromosome 2, while FOLR was mapped to pig chromosome 9. Association analyses between SNPs in the PTH, CSF2 and FOLR suggested that the CSF2 MboII polymorphism was significantly associated with several pork quality traits in the Berkshire and Yorkshire crossed F2 pigs. Our current findings provide useful SNP marker information to fine map QTL regions on pig chromosome 2 and to clarify the relevance of SNP and quantitative traits in commercial pig populations.

Polymorphism in the intron 20 of porcine O-linked N-acetylglucosamine transferase

  • Kim, Jong Gug;Nonneman, Dan;Kim, Doo-Wan;Shin, Sangsu;Rohrer, Gary A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.8
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    • pp.1086-1092
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    • 2017
  • Objective: O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of O-GlcNAc and GlcNAcylation has extensive crosstalk with phosphorylation to regulate signaling and transcription. Pig OGT is located near the region of chromosome X that affects follicle stimulating hormone level and testes size. The objective of this study was to find the variations of OGT between European and Chinese pigs. Methods: Pigs were tested initially for polymorphism in OGT among European and Chinese pigs by polymerase chain reaction and sequencing at the U.S. Meat Animal Research Center (USMARC). The polymorphism was also determined in an independent population of pigs including European and Chinese Meishan (ME) breeds at the National Institute of Animal Science (NIAS, RDA, Korea). Results: The intron 20 of OGT from European and Chinese pigs was 514 and 233 bp, respectively, in the pigs tested initially. They included 1 White composite (WC) boar and 7 sows ($2Minzu{\times}WC$, $2Duroc\;[DU]{\times}WC$, $2ME{\times}WC$, $1Fengzing{\times}WC$) at USMARC. The 281-bp difference was due to an inserted 276-bp element and GACTT in European pigs. When additional WC and ME boars, the grandparents that were used to generate the $1/2ME{\times}1/2WC$ parents, and the 84 boars of 16 litters from mating of $1/2ME{\times}1/2WC$ parents were analyzed, the breeds of origin of X chromosome quantitative trait locus (QTL) were confirmed. The polymorphism was determined in an independent population of pigs including DU, Landrace, Yorkshire, and ME breeds at NIAS. OGT was placed at position 67 cM on the chromosome X of the USMARC swine linkage map. Conclusion: There was complete concordance with the insertion in European pigs at USMARC and NIAS. This polymorphism could be a useful marker to identify the breed of origin of X chromosome QTL in pigs produced by crossbreeding Chinese and European pigs.

Chromosomal Polymorphism of Japanese Quail(Coturnix coturnix japonica) (일본산메추리(Coturnix coturnix japonica)의 염색체 다형현상)

  • 손시환
    • Korean Journal of Poultry Science
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    • v.17 no.4
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    • pp.275-280
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    • 1990
  • Comosomal polymorphism involving constitutive heterochromatin has been reported in mu, pigs, mouse, horse, chicken and so on. The chromosomal polymorphism of Japanese quail which includes constitutive heterochromatin as well the chromosomes without banding treatment has now been found. Through the use of a general technique that permits visualization of chromosome morphology and heterochromatin, three chromosomal variants have been found among birds ; +/+ homozygous from, +/- heterozygous form and -/- homozygous form in chromosome 4. This variants appear to be common in the randombred population and stably inherited in a Mendelian fashion. These results suggest that the variants would be useful as chromosomal markers for various types of cytogenetic studies.

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BENZENE INDUCED CHROMOSOME ABERRATIONS AND THE ASSOCIATION WITH GENETIC POLYMORPHISM

  • Kim, Su-Young;Cho, Yoon-Hee;Jung, Eun-Jung;Park, Jung keun;Paek, Do-Myung;Chung, Hai-Won
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2002.05a
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    • pp.66-66
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    • 2002
  • This study was done to examine the benzene induced chromosomal aberrations and also the influence of genetic polymorphism(GSTM1, GSTT1, GSTP1, NAT2, NQO1, CYP2E1 and CYP1A1) on the chromosomal aberrations. In total, 82 benezene exposed workers and 76 matched controls were examined.(omitted)

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Cytogenetic Studies of Scilla scilloides Complex from Korea III. Karyotype of Cytotype BB and B-Chromosome Composition (한국 무릇(Scilla scilloides Complex)의 세포유전학적 연구 III. BB 게놈의 핵형과 B염색체 조성)

  • 방재욱
    • Journal of Plant Biology
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    • v.36 no.3
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    • pp.281-284
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    • 1993
  • A karyotype of cytotype BB plant in Scilla scilloides Complex was established and the frequency of B-chromosomes were investigated. Chromosome complements of BB genome were composed of five pairs of subtelocentric and four pairs of metacentric chromosomes. Chromosome 1 has satellite with nucleolar organizer. Polymorphism was found in chromosome 2. The karyotype of cytotype BB will be available for analysis of genome composition in various cytotypes of S. scilloides Complex. The frequency of B-chromosome was 78.6%. Numbers of B-chromosome ranged from 1 to 4 and plants with 2B-chromosomes were predominant (57.2%). Two type of B-chromosomes, F and F', were found; F is a large iso-chromosome and F' a small one.

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Electrophoretic Karyotypes of Fusarium oxysporum f. sp. lycopersici (Fusarium oxysporum f. sp. lycopersici의 Electrophoretic Karyotype)

  • Kim, Young-Tae;Kim, Hong-Gi
    • The Korean Journal of Mycology
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    • v.27 no.2 s.89
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    • pp.112-118
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    • 1999
  • Strains of Fusarium oxysporum f. sp. lycopersici isolated from Korea, Japan and U.S.A. were used for electrophoretic karyotype (EK) analysis. Chromosome separations on FastLane agarose gels (FMC BioProducts, Rockland, ME), called pulsed field gel electrophoresis (PFGE), were performed by CHEF-DRII apparatus (Bio-Rad Laboratories, Melville, NY) using TAE as a running buffer. To obtain optimal condition for separation of chromosome sized DNAs, variable running conditions such as field strengths, swithching intervals, and running time were applied in CHEF gel electrophoresis. We were able to resolve 9 to 11 chromosome sized DNAs ranging in size from 0.76 to 6.41 Mb in isolates from Korea and estimate that the total genome size was ranging from 35.29 to 38.92 Mb. Distinct differences in length range and genome size exist among isolates from different countries. Isolates from Japan and U.S.A. were resolved 9 to 11 chromosome sized DNAs ranging in size from 1.24 to 6.85 Mb and estimated that the total genome size was ranging from 35.32 to 43.87 Mb. Isolates from variable provinces in Korea had the same or similar chromosomal polymorphism and showed different chromosomal DNA patterns compared to isolates from the other countries.

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Chromosomal Polymorphism in Diploid and Induced Triploid Rainbow Trout, Oncorhynchus mykiss (양식산 무지개송어 (Oncorhynchus mykiss) 2배체 및 유도된 3배체의 염색체 다형현상)

  • Kim Dong Soo;Kim Jong-Man;Park In-Seok
    • Journal of Aquaculture
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    • v.3 no.2
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    • pp.145-153
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    • 1990
  • Genetic analysis of rainbow trout populations in hatchery stocks is important in order to develop a strategy for their management. In this study, chromosome number and polymorphisms of diploid and artificially induced triploid rainbow trout are discribed. The relation-ship between chromosomal polymorphism and their economic values for the aquaculture industry are also discussed.

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Length polymorphism in OGT between Korean native pig, Chinese Meishan, and the Western pig breeds

  • Nam, Yoon Seok;Kim, Doo-Wan;Kim, Myoung-Jik;Cho, Kyu-Ho;Kim, Jong Gug
    • Journal of Animal Science and Technology
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    • v.57 no.3
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    • pp.12.1-12.5
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    • 2015
  • Background: The Korean native pig (KNP) is generally thought to have come from northern China to the Korean peninsula approximately 2000 years ago. KNP pigs were at the brink of extinction in the 1980s, since then efforts have been made to restore the breed by bringing together the remaining stocks in South Korea. As a result, KNP was registered as a breed in 2006. To find additional breed-specific markers that are distinct among pig breeds, variations in O-linked N-acetylglucosamine transferase (OGT) were investigated. OGT is located on chromosome X and catalyzes the post-translational addition of a single O-linked-${\beta}$-N-acetylglucosamine to target proteins. Findings: Length polymorphism in the intron 20 of OGT was identified. The intron 20 of OGT from Duroc, Landrace, and Yorkshire breeds was 281-bp longer than that from either KNP or Chinese Meishan pigs. The difference between the Western pig breeds (BB genotype) and KNP or Meishan pigs (AA genotype) was due to an inserted 276-bp element and the 5-bp ACTTG. Conclusions: The polymorphism in OGT identified in this study may be used as an additional marker for determining the breed of origin among Meishan and the Western pig breeds. The length polymorphism suggests that the locus near OGT is not fixed in KNP. This marker would be relevant in determining the breed of origin in crossbred pigs between KNP pigs with known genotypes and the Western pig breeds with BB genotypes, thus confirming the contribution of the X chromosome from each breed.