• 제목/요약/키워드: Chromosome number

검색결과 512건 처리시간 0.028초

Loss of Expression and Aberrant Methylation of the CDH1 (E-cadherin) Gene in Breast Cancer Patients from Kashmir

  • Asiaf, Asia;Ahmad, Shiekh Tanveer;Aziz, Sheikh Aejaz;Malik, Ajaz Ahmad;Rasool, Zubaida;Masood, Akbar;Zargar, Mohammad Afzal
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권15호
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    • pp.6397-6403
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    • 2014
  • Background: Aberrant promoter hypermethylation has been recognized in human breast carcinogenesis as a frequent molecular alteration associated with the loss of expression of a number of key regulatory genes and may serve as a biomarker. The E-cadherin gene (CDH1), mapping at chromosome 16q22, is an intercellular adhesion molecule in epithelial cells, which plays an important role in establishing and maintaining intercellular connections. The aim of our study was to assess the methylation pattern of CDH1 and to correlate it with the expression of E-cadherin, clinicopathological parameters and hormone receptor status in breast cancer patients of Kashmir. Materials and Methods: Methylation specific PCR (MSP) was used to determine the methylation status of CDH1 in 128 invasive ductal carcinomas (IDCs) paired with the corresponding normal tissue samples. Immunohistochemistry was used to study the expression of E-cadherin, ER and PR. Results: CDH1 hypermethylation was detected in 57.8% of cases and 14.8% of normal adjacent controls. Reduced levels of E-cadherin protein were observed in 71.9% of our samples. Loss of E-cadherin expression was significantly associated with the CDH1 promoter region methylation (p<0.05, OR=3.48, CI: 1.55-7.79). Hypermethylation of CDH1 was significantly associated with age at diagnosis (p=0.030), tumor size (p=0.008), tumor grade (p=0.024) and rate of node positivity or metastasis (p=0.043). Conclusions: Our preliminary findings suggest that abnormal CDH1 methylation occurs in high frequencies in infiltrating breast cancers associated with a decrease in E-cadherin expression. We found significant differences in tumor-related CDH1 gene methylation patterns relevant to tumor grade, tumor size, nodal involvement and age at diagnosis of breast tumors, which could be extended in future to provide diagnostic and prognostic information.

암환자에서 방사선치료에의한 염색체이상 (Effect of Radiotherapy on Chromosomal Aberration in Cancer Patients)

  • 전하정;이명자;유명수
    • Radiation Oncology Journal
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    • 제11권1호
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    • pp.43-50
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    • 1993
  • 방사선에의 노출은 염색체 이상을 유발하는 원인으로 널리 인식되고 있으나 in vivo상태에서 방사선 조사 후 발생되는 염색체 이상의 종류와 빈도 규명은 드물었다. 이에 본 연구에서는 암 환자에서 방사선 치료 전 및 후에 말초혈액 임파구의 염색체 변이를 비교 관찰하고 방사선 조사에 의해 암 환자세포에서 나타나는 염색체 이상에서 절단점의 분포가 암 발생과 밀접한 연관이 된 유전자 및 염색체의 재조합이 자주 일어나는 부위와 연관관계 가 있음을 규명하고자 하였다. 25예의 암 환자에서 방사선 치료가 시작되기 전과 $4000\~7000cGy$의 근치적 방사선치료가 끝난 직후 말초 혈액을 채취하여 임파구를 배양후 G-분염법을 이용하여 염색한 후 환자마다 방사선치료 전후로 각각 30개씩의 증기상을 관찰하였다. 치료전에 염색체 이상을 나타낸 세포 분열 중기상의 빈도는 $4.93\%$로 정상 대조군 집단의 빈도 $2\%$보다 높았다(p<0.05). 방사선 치료후 염색체 이상 세포의 빈도는 $22.13\%$로 치료전에 비해 매우 중가되었다(p<0.01). 또한 세포 중기상당 이상 염색체의 수도 치료전과 후가 각각 1.49및 2.14로 치료후 증가 되었다(p<0.05). 염색체 이상의 종류는 major chromosomal aberration 특히 구조적 이상의 빈도가 치료전보다 후에 $65.45\%$에서 $88.45\%$로 증가되었고 minor structural abnormality와 수적 변이의 빈도는 감소되었다. 방사선 치료후 염색체 절단점의 수가 2개 이상인 경우가 단일 절단점을 가진 이상에 비해 증가되었다. 절단점의 분포에 있어서는 암세포에서 가장 흔한 이상을 나타내는 1번 및 3번 염색체와 절단점의 증가가 암 발생관 연관된다고 보고된 8번 및 11번 염색체에서 본 연구결과 기대치 이상의 절단점의 분포를 보이고, 암 세포에서 드물게 이상을 나타내는 13, 15및 21번 염색체에서는 기대치 보다 감소된 절단점의 분포를 보였다. 따라서 방사선 치료 후 염색체 이상의 빈도는 증가되었으며 방사선 조사에 의해 나타나는 염색체의 절단점의 분포는 암 발생과 밀접한 연관이 된 유전자 및 염색체의 재조합이 자주 일어나는 부위와 밀접한 연관 관계가 있음을 보여 주었다.

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Identification of Major Blast Resistance Genes in Korean Rice Varieties(Oryza sativa L.) Using Molecular Markers

  • Cho, Young-Chan;Kwon, Soon-Wook;Choi, Im-Soo;Lee, Sang-Kyu;Jeon, Jong-Seong;Oh, Myung-Kyu;Roh, Jae-Hwan;Hwang, Hung-Goo;Yang, Sae-June;Kim, Yeon-Gyu
    • Journal of Crop Science and Biotechnology
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    • 제10권4호
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    • pp.265-276
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    • 2007
  • The 13 major blast resistance(R) genes against Magnaporthe grisea were screened in a number of Korean rice varieties using molecular markers. Of the 98 rice varieties tested, 28 were found to contain the Pia gene originating from Japanese japonica rice genotypes. The Pib gene from BL1 and BL7 was incorporated into 39 Korean japonica varieties, whereas this same gene from the IRRI-bred indica varieties was detected in all Tongil-type varieties. We also found that 17 of the japonica varieties contained the Pii gene. The Pii gene in Korean rice varieties originates from the Korean japonica variety Nongbaeg, and Japanese japonica varieties Hitomebore, Inabawase, and Todorokiwase. The Pi5 gene, which clusters with Pii on chromosome 9, was identified only in Taebaeg. Thirty-four varieties were found to contain alleles of the resistance gene Pita or Pita-2. The Pita gene in japonica varieties was found to be inherited from the Japanese japonica genotype Shimokita, and the Pita-2 gene was from Fuji280 and Sadominori. Seventeen japonica and one Tongil-type varieties contained the Piz gene, which in the japonica varieties originates from Fukuhikari and 54BC-68. The Piz-t gene contained in three Tongil-type varieties was derived from IRRI-bred indica rice varieties. The Pi9(t) gene locus that is present in Korean japonica and Tongil-type varieties was not inherited from the original Pi9 gene from wild rice Oryza minuta. The Pik-multiple allele genes Pik, Pik-m, and Pik-p were identified in 24 of the varieties tested. In addition, the Pit gene inherited from the indica rice K59 strain was not found in any of the Korean japonica or Tongil-type varieties tested.

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Calcium Ionophore를 이용한 소 배반포로 부터의 배아주 유사세포의 효과적인 분리 (Efficient Establishment of Presumptive Embryonic Stem Cells from Bovine Blastocysts by Exposure to Calcium Ionophore)

  • 김선욱;류재웅;이철상;한용만;박정선;유대열;이경광
    • 한국발생생물학회지:발생과생식
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    • 제3권1호
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    • pp.45-51
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    • 1999
  • 소 배반포로부터 배아주 (embryonic stem, ES) 유사세포를 분리하기 위해서는 영양외배엽 (trophectoderm, TE) 세포를 제거하는 것이 효과적이다. 따라서 본 실험은 효과적으로 TE를 제거하기 위한 calcium ionophore A23187 (CIPA) 처리조건을 확립하고, 분리해낸 ES 유사세포의 in vitro 다능성 (pluripotency)을 검증하고자 수행하였다. CIPA 농도 및 처리시간을 달리 하였을 때 50 $\mu$M에서 25분간 처리한 군이 colony 형성율 (51%)및 10 passage 까지의 배양성적 (4.8%)에서 가장 좋은 결과를 나타내었다. 또한 CIPA를 처리하지 않은 군과의 비교에서도 약 5배의 높은 결과를 보임으로서 본 실험에서 확립된 CIPA 처리조건은 가시적인 toxicity 없이 ES 유사세포의 확립에 이용될 수 있음을 시사하였다. 확립된 ES 유사세포는 heterogeneous한 alkaline phosphatase (AP) 활성을 보여 소 ES 유사세포에 대한 타 보고들과 유사한 결과를 보였다. In vitro 부양배양 (suspension culture)에서는 embryoid body로 분화가 가능하였으며, 약 70% 정도의 euploidism을 보였다. 따라서 본 실험에서 확립된 CIPA의 처리조건이 소 배반포로부터 ES 유사세포를 확립하는데 효과적으로 이용될 수 있음을 확인할 수 있었다.

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Comparison of Molecular Linkage Maps and QTLs for Morphological Traits in Two Reciprocal Backcross Populations of Rice

  • Qiao, Yongli;Jiang, Wenzhu;Rahman, Md Lutfor;Chu, Sang-Ho;Piao, Rihua;Han, Longzhi;Koh, Hee-Jong
    • Molecules and Cells
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    • 제25권3호
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    • pp.417-427
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    • 2008
  • Comparison of maps and QTLs between populations may provide us with a better understanding of molecular maps and the inheritance of traits. We developed and used two reciprocal $BC_1F_1$ populations, IP/DS//IP and IP/DS//DS, for QTL analysis. DS (Dasanbyeo) is a Korean tongil-type cultivar (derived from an indica x japonica cross and similar to indica in its genetic make-up) and IP (Ilpumbyeo) is a Korean japonica cultivar. We constructed two molecular linkage maps corresponding to each backcross population using 196 markers for each map. The length of each chromosome was longer in the IP/DS//IP population than in the IP/DS//DS population, indicating that more recombinants were produced in the IP/DS//IP population. Distorted segregation was observed for 44 and 19 marker loci for the IP/DS//IP and IP/DS//DS populations, respectively; these were mostly skewed in favor of the indica alleles. A total of 36 main effect QTLs (M-QTLs) and 15 digenic epistatic interactions (E-QTLs) were detected for the seven traits investigated. The phenotypic variation explained (PVE) by M-QTLs ranged from 3.4% to 88.2%. Total PVE of the M-QTLs for each trait was significantly higher than that of the E-QTLs. The total number of M-QTLs identified in the IP/DS//IP population was higher than in the IP/DS//DS population. However, the total PVE by the M-QTLs and E-QTLs together for each trait was similar in the two populations, suggesting that the two $BC_1F_1$ populations are equally useful for QTL analysis. Maps and QTLs in the two populations were compared. Eleven new QTLs were identified for SN, SF, GL, and GW in this study, and they will be valuable in marker-assisted selection, particularly for improving grain traits in tongil-type varieties.

한국인 남자에서 Synapsin III 유전자의 D22S280 표지자와 정신분열병의 연합연구 (No Associations between Schizophrenia and D22S280 Marker on Synapsin III Gene in Korean Males)

  • 이유상;박종원;이승연;이석진;박용범;신윤식;유장근;홍경수;양병환
    • 생물정신의학
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    • 제13권4호
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    • pp.260-266
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    • 2006
  • Objectives : Synapsin III near VCFS region on chromosome 22q affects. It could be an interesting candidate gene for schizophrenia. D22S280 is a highly polymorphic genetic marker residing in synapsin III. We examined association of D22S280 marker on synapsin III with Korean patients with schizophrenia. Methods : The subjects were 46 male Korean patients with schizophrenia and 60 male normal controls. Using polymerase chain reaction, gel electrophoresis, ABI 310 genetic analyzer, and GeneScan Collection 3.1 software, we confirmed genotypes of D22S280 marker. We examined Hardy-Weinberg equilibrium and case-control association using SAS/Genetic 9.1.3. Results : Genotypes of both schizophrenia and control groups were in Hardy-Weinberg equilibrium. We could not find any significant statistical differences in allele-wise(${\chi}^2$=10.4, df=6, p=0.098) and genotype-wise (${\chi}^2$=22.1 df=19, p=0.258) analyses of D22S280 marker between schizophrenia and normal controls. Individual allele analyses with df=1 showed significant differences in A1(p=0.025) and A7(p=0.034) allele, which were not significant following Bonferroni corrections(A1:p=0.177, A7:p=0.235). Conclusion : We couldn't find any association between schizophrenia and the synapsin III gene. Given the small number of subjects studied, further investigations are needed.

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종간교잡 유래 중생 다수성 벼 품종 "화원 2호" (A New Rice Variety Developed from an Interspecific Cross, "Hwaweon 2")

  • 안상낙;송미희;김동민;오창식;강주원;박인규
    • 한국육종학회지
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    • 제41권3호
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    • pp.342-345
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    • 2009
  • "화원2호"는 종간교잡을 통해 화성벼의 근동질계통을 육성하고자 '97년 화성벼와 O. rufipogon을 교배하고, 계속적인 여교배와 MAS를 병행 실시하여 CR121-1-1 계통을 선발하였다. 생산력검정 시험 결과 조사된 형질 중 천립중, 출수기, 간장, 수당립수 등에서 화성벼와 차이를 보이는 화성벼 근동질계통으로, 품종보호원 출원 조건에 부합하여 "화원2호"로 명명하고 품종보호원을 출원하였다. 화원 2호는 중간모본 혹은 분자연구를 위한 재료로서도 유용할 것이다. 1. 출수기는 보통기재배에서 8월 16일로 "화성벼보다 6일 정도 늦은 중만생종 품종이다. 2. 천립중은 24.4 g으로 "화성벼"보다 1.9 g 정도 증가하였으며 간장, 수당립수 등에서도 화성벼와 차이를 보였다. 3. 흰잎마름병에는 이병성이며, 줄무늬잎마름병에는 저항성이다. 5. 도정 특성, 아밀로스 함량은 화성벼와 비슷한 수준이다. 6. "화원 2호"의 정조수량은 '05~'06년 2개년간 실시한 생산력검정 시험에서 평균 7.68 MT/ha로 "화성벼" 대비 114% 수준이었다.

울릉도 말오줌나무와 근연종의 재검토 (A reappraisal of Sambucus pendula Nakai on Ulleung Island and its allies)

  • 임효인;장계선;이흥수;장진성;김휘
    • 식물분류학회지
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    • 제39권3호
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    • pp.181-192
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    • 2009
  • 울릉도에 분포하는 말오줌나무는 화서가 크고 아래로 처지며 열매가 다른 분류군에 비해 작은 특징때문에 한반도 고유종으로 간주되었다. 본 연구는 근연종인, 지렁쿠나무, 덧나무, 딱총나무를 포함한 총 256개 개체에 대해 주성분분석(PCA)을 통해 각 분류군간 형태적 특징을 비교하였는데, 형태 분석 결과 말오줌나무는 지렁쿠나무와 덧나무에 비해 화서의 크기가 크고 총화경이 길어 뚜렷한 차이가 있었다. 이런 화서의 특징 이외에 말오줌나무의 암술머리 색깔은 덧나무와 지렁쿠나무의 혼합형이며, 동위효소와 염색체 수의 경우에는 덧나무에 더 가까웠다. 반면 말오줌나무는 한반도 내의 다른 개체들과 형태적으로 불연속을 보이는데, 이는 한반도 내 분류군들 간에는 지속적인 유전적 교류가 있었던 반면, 울릉도의 말오줌나무는 신생대 4기 이후 섬 지역에 고립되어 형태적으로는 비교적 고착화된 것으로 판단된다. 전 세계 딱총나무속의 연구에 의하면 종간 잡종 현상이 활발히 보고되는데, 현재 본 연구에서 분석된 지렁쿠나무와 덧나무의 형질의 혼합 혹은 중간 형태는 잡종에 의한 결과인지, 혹은 형질의 연속변이로 인한 결과인지는 불확실하다. 유라시아와 북미 대륙에 넓게 분포하는 Sambucus racemosa L.는 지역적으로 일부 분류군들이 분화하여 기존에 아종으로 처리되고, 동북아시아에서는 지렁쿠나무와 덧나무의 실체가 확인되지만 여전히 각 분류군간에 형태적으로 중첩이 된다. 따라서, 본 연구에서는 말오줌나무를 S. racemosa의 아종, 즉 S. racemosa subsp. pendula로 처리하였다.

Fine mapping of rice bacterial leaf blight resistance loci on K1 and K2 of Korean races of Xoo (Xanthomonas oryzae) using GWAS analysis

  • 현도윤;이정로;조규택;;신명재;이경준
    • 한국자원식물학회:학술대회논문집
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    • 한국자원식물학회 2019년도 춘계학술대회
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    • pp.62-62
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    • 2019
  • Bacterial leaf blight(BLB), caused by X. oryzae pv. oryzae(Xoo), is one of the most destructive diseases of rice due to its high epidemic potential. Understanding BLB resistance at a genetic level is important to further improve the rice breeding that provides one of the best approaches to control BLB disease. In the present investigation, a collection of 192 accessions was used in the genome-wide association study (GWAS) for BLB resistance loci against four Korean races of Xoo that were represented by the prevailing BLB isolates under Xoo differential system. A total of 192 accessions of rice germplasm were selected on the basis of the bioassay using four isolated races of Xoo such as K1 and K2. The selected accessions was used to prepare 384-plex genotyping by sequencing (GBS) libraries and Illumina HiSeq 2000 pairedend read was used for GBS sequencing. GWAS was conducted using TASSEL 5.0. The TASSEL program uses a mixed linear model (MLM). The results of the bioassay using a selected set of 192 accessions showed that a large number of accessions (93.75%) were resistant to K1 race and K2 resistant germplasm proportion remained between 66.67. The genotypic data produced SNP matrix for a total of 293,379 SNPs. After imputation the missing data was removed, which exhibited 34,724 SNPs for association analysis. GWAS results showed strong signals of association at a threshold of [-log10(P-value)] more than 5 (K1 and K2) for nine of the 39 SNPs, which are plausible candidate loci of resistance genes. These SNP loci were positioned on rice chromosome 2, 9, and 11 for K1 and K2 races. The significant loci detected have also been illustrated and make the CPAS markers for NBS-LRR type disease resistance protein, SNARE domain containing protein, Histone deacetylase 19, NADP-dependent oxidoreductase, and other expressed and unknown proteins. Our results provide a better understanding of the distribution of genetic variation of BLB resistance to Korean pathogen races and breeding of resistant rice.

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A genome-wide association study for the fatty acid composition of breast meat in an F2 crossbred chicken population

  • Eunjin Cho;Minjun Kim;Sunghyun Cho;Hee-Jin So;Ki-Teak Lee;Jihye Cha;Daehyeok Jin;Jun Heon Lee
    • Journal of Animal Science and Technology
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    • 제65권4호
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    • pp.735-747
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    • 2023
  • The composition of fatty acids determines the flavor and quality of meat. Flavor compounds are generated during the cooking process by the decomposition of volatile fatty acids via lipid oxidation. A number of research on candidate genes related to fatty acid content in livestock species have been published. The majority of these studies focused on pigs and cattle; the association between fatty acid composition and meat quality in chickens has rarely been reported. Therefore, this study investigated candidate genes associated with fatty acid composition in chickens. A genome-wide association study (GWAS) was performed on 767 individuals from an F2 crossbred population of Yeonsan Ogye and White Leghorn chickens. The Illumina chicken 60K significant single-nucleotide polymorphism (SNP) genotype data and 30 fatty acids (%) in the breast meat of animals slaughtered at 10 weeks of age were analyzed. SNPs were shown to be significant in 15 traits: C10:0, C14:0, C18:0, C18:1n-7, C18:1n-9, C18:2n-6, C20:0, C20:2, C20:3n-6, C20:4n-6, C20:5n-3, C24:0, C24:1n-9, monounsaturated fatty acids (MUFA) and polyunsaturated fatty acids (PUFA). These SNPs were mostly located on chromosome 10 and around the following genes: ACSS3, BTG1, MCEE, PPARGC1A, ACSL4, ELOVL4, CYB5R4, ME1, and TRPM1. Both oleic acid and arachidonic acid contained the candidate genes: MCEE and TRPM1. These two fatty acids are antagonistic to each other and have been identified as traits that contribute to the production of volatile fatty acids. The results of this study improve our understanding of the genetic mechanisms through which fatty acids in chicken affect the meat flavor.