• Journal of Animal Science and Technology
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• 제44권6호
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• pp.653-660
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• 2002

소의 흰 반점 관련 후보유전자로 c-KIT receptor 유전자를 선정하여, c-KIT receptor 유전자내의 변이를 탐색하고 변이가 흰반점 표현형과 연관성이 있는지를 분석하였다. 한우, Angus, Brown Swiss, Charolais, Hereford, Hols- tein, Limousin 및 Simmental 등 8개 품종의 DNA 시료를 사용하여 c-KIT receptor 유전자의 intron 6번 영역에서 다형성을 조사하고 분석하였다. c-KIT receptor 유전자의 intron 6번 영역에서는 4개의 염기치환이 발견되어, MspⅠ, BsrBⅠ 및 NdeⅠ 제한효소를 이용하여 PCR- RFLP 분석을 실시하였다. Intron 6번을 포함하는 영역의 PCR 산물 크기는 2,440 bp 이었다. MspⅠ다형성은 PCR-RFLP 분석 결과 3개의 대립유전자가 존재하였으며, 한우품종에서는 3개의 대립유전자 모두가 발견되었고, CC 형태의 유전자형을 제외한 5개의 유전자형 (AA, AB, AC, BC 및 BB)을 확인하였다. Angus, Brown Swiss, Hereford, Holstein 및 Simmental 품종에서는 A 대립유전자만을 갖는 것으로 조사되었고, 한우는 44%만 AA 유전자형을 나타내었다. BsrBⅠ 다형성은 2개의 대립유전자로서 3개의 유전자형이 나타나는 것을 확인하였으며, Charo- lais 및 Hereford 품종이 다른 소 품종에 비하여 A 대립유전자의 빈도가 높게 나타났다. NdeⅠ다형성을 분석한 결과 Brown Swiss 품종에서는 NdeⅠ에 의해 절단되는 형태인 A 대립유전자만 관찰되었으며, Holstein 품종은 92%, Simmental 품종은 72%가 절단되는 형태를 나타내어, 모색이 흰색을 띠는 소 품종에서 절단되는 형태가 많았다. 소 c-KIT receptor 유전자의 intron 6번 영역에서 확인된 4개의 염기치환은 품종에 따라 다른 빈도를 보였으나, 이들 염기치환과 흰 반점과의 연관성에 대한 증거는 발견하지 못하였다. 그러므로 소의 흰 반점과 c-KIT receptor 유전자 내의 변이와의 관련성은 다른 영역에 대한 추가적인 분석과, 이미 보고된 다른 모색관련 유전자의 다형성과의 연관성 분석 등과 같은 연구가 필요한 것으로 판단된다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2489-2493
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• 2015

Background: Loss of heterozygosity (LOH) on chromosomal regions is crucial in tumor progression and this study aimed to identify genome-wide LOH in pancreatic cancer. Materials and Methods: Single-nucleotide polymorphism (SNP) profiling data GSE32682 of human pancreatic samples snap-frozen during surgery were downloaded from Gene Expression Omnibus database. Genotype console software was used to perform data processing. Candidate genes with LOH were screened based on the genotype calls, SNP loci of LOH and dbSNP database. Gene annotation was performed to identify the functions of candidate genes using NCBI (the National Center for Biotechnology Information) database, followed by Gene Ontology, INTERPRO, PFAM and SMART annotation and UCSC Genome Browser track to the unannotated genes using DAVID (the Database for Annotation, Visualization and Integration Discovery). Results: The candidate genes with LOH identified in this study were MCU, MICU1 and OIT3 on chromosome 10. MCU was found to encode a calcium transporter and MICU1 could encode an essential regulator of mitochondrial $Ca^{2+}$ uptake. OIT3 possibly correlated with calcium binding revealed by the annotation analyses and was regulated by a large number of transcription factors including STAT, SOX9, CREB, NF-kB, PPARG and p53. Conclusions: Global genomic analysis of SNPs identified MICU1, MCU and OIT3 with LOH on chromosome 10, implying involvement of these genes in progression of pancreatic cancer.

• BMB Reports
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• 제34권2호
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• pp.114-117
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• 2001

Cervi Parvum Cornu is widely used as a hemopoietic, tonifying, growth-promoting, cardiotonic, and immuno-modulating agent in Korea. In order to develop the quality control method of Cervi Parvum Cornu by the identification of the biological source or origin, the molecular approach was applied using PCR (polymerase chain reaction) and PCR-RFLF (PCR-restriction fragment length polymorphism) analysis. In the PCR analysis of the mitochondrial 12S rRNA gene and cytochrome b gene regions, no distinctive DNA bands from Cervidae (deer) antlers and Rangifer (reindeer) antlers were observed. However, when the amplified products in the mitochondrial cytochrome b gene region were subjected to restriction digestion with TaqI, Cervidae antlers showed an undigested state of 380 by band, differently from two bands of 230 by and 1S0 by from Rangifer antlers. Based on this finding, the base sequences of amplified PCR products in the range of mitochondria) cytochrome b gene from Cervidae antlers and Rangifer antlers were determined and subjected to restriction analysis by various endonucleases. The results showed that antlers from Rangifer species could be simply discriminated with other antlers from 8 Cervidae species (Chinese deer, Russian deer, Hong Kong deer, New Zealand deer, Kazakhstan deer, elk, red deer and Sika deer) by PCR-RFLP analysis using AtuI, HaeIII, HpaII or Sau3AI(MboI) as well as TaqI in the range of the mitochondrial cytochrome b gene.

• Asian Pacific Journal of Cancer Prevention
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• 제16권14호
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• pp.5647-5654
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• 2015

Gall bladder cancer (GBC) is a gastro-intestinal cancer with high prevalence among north Indian women. Platelet derived growth factor-B (PDGFB) and human epidermal growth factor receptor-2 (HER2) may play roles in the etiology of GBC through the inflammation-hyperplasia-dysplasia-carcinoma pathway. To study the association of PDGFB and HER2 polymorphisms with risk of GBC, 200 cases and 300 controls were considered. PDGFB +286A>G and +1135A>C polymorphisms were investigated with an amplification refractory mutation system and the HER2 $Ile^{655}Val$ polymorphism by restriction fragment length polymorphism. Significant risk associations for PDGFB +286 GG (OR=5.25) and PDGFB +1135 CC (OR=3.19) genotypes were observed for GBC. Gender wise stratification revealed susceptibility for recessive models of PDGFB +1135A>C (OR=3.00) and HER2 $Ile^{655}Val$ (OR=2.52) polymorphisms among female GBC cases. GBC cases with gall stones were predisposed to homozygous +286 GG and +1135 CC genotypes. Significant risk associations were found for ACIle (OR=1.48), GAVal (OR=1.70), GAIle (OR=2.00) haplotypes with GBC cases and GCIle haplotype with female GBC cases (OR=10.37, P=<0.0001). Pair-wise linkage disequilibrium revealed negative associations among variant alleles. On multi-dimensional reduction analysis, a three factor model revealed significant gene-gene interaction for PDGFB +286A>G, PDGFB +1135A>C and HER2 Ile165Val SNPs with GBC. Protein-protein interaction showed significant association of PDGFB and HER2 with the epidermal growth factor receptor signaling pathway.

• 한국환경복원기술학회지
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• 제17권1호
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• pp.81-90
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• 2014

A Fairy Pitta is a bird known to breed only in mainland China, Taiwan, Japan and Korea and is listed as Vulnerable in the IUCN Red List. We carried out a DNA analysis to contribute to conserve the genetic diversity of Fairy Pitta. 32 samples were collected at Jeju Island, the Korean Peninsula and Taiwan from 2004 to 2013 and DNA was extracted from them and several sequences were amplified-it through PCR. And then we performed the population genetic analysis. We found there was a transversion between nucleotide sequences at CO1 gene, while there was no changes at Cyt-b gene. And we confirmed the polymorphism from two genes was caused from genetic drift not from selection. Through this analysis, the group within the Peninsula was found bigger than other two groups based on the analysis of CO1 gene, and the group from Taiwan was found bigger than other two groups through the analysis of Cyt-b gene. The population genetic structure of mitochondria gene of three group was showing CO1 gene had 5 haplotypes and Cyt-b gene had 6 haplotypes. Haplotype 2 in CO1 gene was found in three group and many individuals of samples had this haplotype. Like CO1 gene, haplotype 2 in Cyt-b gene was found in three group and was included in plenty of individuals. Other haplotypes were not overlaped and broke off among the three groups. To prevent from the extinction of Fairy Pitta and to obtain the genetic diversity, we need to compare with other regional group such as Japan, China and perform additional research in the non-breeding area.

• The Plant Pathology Journal
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• 제19권1호
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• pp.57-63
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• 2003

An insertion sequence identified as a solo long terminal repeat (LTR) of a new rice copia-like retrotransposon was detected in the ORE of the Pi-b gene from the rice cv. Nipponbare, and was designated as Osr1. Osr1 consists of a 6386 bp nucleotide sequence including 965 bp LTRs on both ends with an 82％ nucleotide sequence identity to the wheat Tarl retrotransposon on reverse transcriptase. Nucleotide divergence was noted among the individual LTRs, as well as the coding region of Osr1. Various restriction fragment length polymorphism (RFLP) of LTR were detected in indica cultivars, whereas, only a few could be detected in the japonica cultivars. The population of Osr1 is lower in the wild-type rice compared with that in the domesticated cultivars. The insertion of LTR sequence in the h-b gene in the susceptible cultivar suggested that retro-tyansposon-mediated insertional mutation might play an important role in the resistance breakdown, as well as in the evolution of resistance genes in rice.

• Journal of Animal Science and Technology
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• 제50권2호
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• pp.265-272
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• 2008

지방세포분화 초기에 중요한 역할을 수행하는 것으로 보고되고 있는 C/EBPβ 유전자를 cloning하기 위하여 한우 26개월령 등심조직을 이용하여 Total RNA를 추출하고 RT-PCR을 수행한 결과 한우 및 흑한우 C/EBPβ는 1047bp, 348 아미노산 서열을 가지고 있었다. 한우 및 흑한우 C/EBPβ의 아미노산 서열을 NCBI에 등록된 Japanese black cattle C/EBPβ(NCBI accession No. NM_176788) 비교한 결과 약 97%의 상동성을 나타내었다. 또한 인간, 닭, 생쥐, 쥐의 C/EBPβ 아미노산 서열을 비교한 결과 각각 96%, 58%, 74%, 75%의 상동성을 나타내었다. 그러나 각 종간의 leucine zipper domain간의 상동성은 매우 높게 나타났다. 한우 C/EBPβ의 발현은 폐, 등심, 지방조직에서 나타나고 있으나, 지방조직에서 좀 더 많은 발현을 보이고 있었다. 그리고 C/EBPβ 유전자의 bZIP 영역에서 polymorphism이 나타나지 않음을 확인하였다.

• Journal of Life Science
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• 제10권2호
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• pp.14-16
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• 2000

Genetic variation of hemoglobin and erythrocyte ganglisoside monooxygenase were analyzed in Korean nature dog Sapsarees by horizontal starch gel electrophoresis and thin layer chromatography. Hemoglobin has three phenotypes A, B and AB, which are controlled by two codominant alleles, {TEX}$Hb^{a}${/TEX} and {TEX}$Hb^[b}${/TEX}, at one autosomal locus. Gene frequencies of {TEX}$Hb^{a}${/TEX} and {TEX}$Hb^{b}${/TEX} were 0.537 and 0.4625. Ganglioside monooxygenase has two phenotypes, dominant and recessive. They are controlled by a dominant allele {TEX}$Gmo^{a}${/TEX} and a recessive allele {TEX}$Gmo^{g}${/TEX}. Frequencies of {TEX}$Gmo^{a}${/TEX} and {TEX}$Gmo^{g}${/TEX} were 0.5477 and 0.4523.

• Asian-Australasian Journal of Animal Sciences
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• 제20권2호
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• pp.166-171
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• 2007

The objective of this study was to assess the association of polymorphisms in ${\kappa}$-cn, ${\beta}$-lg, ${\beta}$-lg 5′ flanking region, CSN1S2, and IGFBP-3 genes with milk production traits and mastitis-related traits in Chinese Holstein. Traits analyzed were 305 day standard milk yield, protein percentage, fat percentage, the ratio of fat percentage and protein percentage, pre-somatic cell count, somatic cell count, and somatic cell score, respectively. CSN1S2 locus was uninformative because only one genotype BB was found in Chinese Holstein. Allele frequencies of A and B in IGFBP-3 gene were 0.5738 and 0.4262 in Chinese Holstein population, which was different from reported Qinchuan cattle population. The genotypes of animals at IGFBP-3 locus significantly affected 305 day standard milk yield, protein percentage, and somatic cell score. The ${\beta}$-lg genotypes had a significant effect on protein percentage and the ratio of fat percentage and protein percentage. Polymorphism in ${\beta}$-lg 5′ flanking region was associated with 305 day standard milk yield, protein percentage, fat percentage, pre-somatic cell count, and somatic cell count. No significant associations of the polymorphism in ${\kappa}$-cn gene were observed for any trait.

• Asian-Australasian Journal of Animal Sciences
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• 제18권11호
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• pp.1529-1534
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• 2005

Individual-breed assignments were implemented in six swine populations using twenty six microsatellites recommended by the Food and Agriculture Organization and the International Society for Animal Genetics (FAO-ISAG). Most microsatellites exhibited high polymorphisms as shown by the number of alleles and the polymorphism information content. The assignment accuracy per locus obtained by using the Bayesian method ranged from 33.33% (CGA) to 68.47% (S0068), and the accumulated assignment accuracy of the top ten loci combination added up to 96.40%. The assignment power of microsatellites based on the Bayesian method had positive correlations with the number of alleles and the gene differential coefficient ($G_{st}$) per locus, while it has no relationship to genetic heterozygosity, polymorphism information content per locus and the exclusion probabilities under case II and case III. The percentage of corrected assignment was highest for the Bayesian method, followed by the gene frequency and distancebased methods. The assignment efficiency of microsatellites rose with increase in the number of loci used, and it can reach 98% when using a ten-locus combination. This indicated that such a set of ten microsatellites is sufficient for breed verification purposes.