• Title/Summary/Keyword: Variants

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Morphological characteristics and genetic diversity of Calanthe species native to Korea (한국 자생 새우난초의 형태적 특성 및 유전적 다양성)

  • Cho, Dong-Hoon;Choi, Young-Whan;Kang, Jum-Soon;Lee, Yong-Jae;Choi, In-Soo;Lee, Young-Geun;Jee, Sun-Ok;Kim, Kyung-Min;Son, Beung-Gu
    • Journal of Life Science
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    • v.17 no.3 s.83
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    • pp.312-317
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    • 2007
  • This study was conducted to research the morphological characteristics and analyze the genetic diversity by using RAPD in Calanthe species native to Korea. Nine samples were selected by flower color and 19 morphological characteristics. In the length and width of leaf, dorsal sepal, the lateral sepal, the petal, the central lip, and the lateral lip, C. discolor was the shortest and narrowest, respectively, but C. sieboldii was the longest and the widest, respectively. The flower stalk length was the shortest in C. discolor, and the longest in C. sieboldii. Three variants were the intermediate between C. discolor and C. sieboldii in the above morphological characteristics, but spur length was the longest in C. discolor, the shortest in C. sieboldii, and intermediate in the variants. The ovary length in C. discolor was shortest and C. sieboldii and variants were similar with each other. The flower color of C. discolor were brownish red, the value of CIE Lab was between 40 and 50. The flower color of C. sieboldii was yellowish, the value of CIE Lab was between 110 and 130. And variants had various colors between 50 to 70 in the value of CIE Lab. By analyzing multiple band patterns of PCR products, 154 bands were selected as polymorphic RAPD markers. The analysis of genetic similarity of Calanther species using RAPD showed that C. discolor and C. sieboldii are more distant from each other than variants, and these results demonstrated that genetic position of variants located between C. discolor and C. sieboldii.

Hop stunt viroid (HSVd) Sequence Variants from Dapple Fruits of Plum (Prunus salicina L.) in Korea (국내 얼룩반점 자두에서 발생한 호프왜화바이로이드(HSVd)의 유전자 변이)

  • Cho, In-Sook;Chung, Bong-Nam;Cho, Jeom-Doeg;Choi, Seung-Kook;Choi, Gug-Seoun;Kim, Jeong-Soo
    • Research in Plant Disease
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    • v.17 no.3
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    • pp.358-363
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    • 2011
  • Dapple fruits of plum cv. Oiishiwase (Prunus salicina L.) were occurred at Gyeonggi-do and Gyeongsangbukdo. The symptoms resembled the dapple fruit disease caused by Hop stunt viroid (HSVd). To identify the causal disease agents, RT-PCR was performed with the specific primers of HSVd. RT-PCR analysis showed that HSVd variants (DP1, DP2) were detected from dapple fruits. HSVd detection was also confirmed by the dot blot hybridization using a DIG-probe specific to HSVd. Nucleotide sequences of DP1 and DP2 had the identities of 94-100% with those of other 7 variants of HSVd in Genbank database. DP1 and DP2 were different in two nucleotides of CG and AA at position of 59 and 60, orderly. Based on nucleotide sequences at position of 59 and 60, HSVd variants associated with plum dapple fruits could be divided mainly into three groups as CG, AA and TG.

C-분염(分染)에 의한 사람의 염색체 다형성에 관한 연구

  • Choi, Soo-Kyung;Paik, Yong-Kyun;Lee, Hyung-Hoan
    • Clinical and Experimental Reproductive Medicine
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    • v.16 no.1
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    • pp.41-55
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    • 1989
  • Lymphocyte chromosome preparations obtained by the micromethod (Arakaki and Sparkes, 1963) from 234 our patients (165 females and 69 males) were analysed by C-, NOR-and GC-bandings for chromosome heteromorphisms. The centromeric regions of chromosomes 1,9,16 and the long arm of the Y chromosomes were tested for C heteromorphism. Minor variations found in this study such as inv(9), prominant short arms and large satellites of acrocentrics were also examined by appropriate banding techniques. Of the 234 probands, a total of 125 different C-variants were detected, and the average frequency of the variants per individual was estimated to be 0.53. The observed variations were as follows : 99 qh variants, 5 pericentric inversions of chromosome 9, and 21 satellite and/or short arm variants.

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Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan

  • Baloch, Abdul Hameed;Khosa, Ahmad Nawaz;Bangulzai, Nasrullah;Shuja, Jamila;Naseeb, Hafiz Khush;Jan, Mohammad;Marghazani, Illahi Bakhsh;Kakar, Masood-ul-Haq;Baloch, Dost Mohammad;Cheema, Abdul Majeed;Ahmad, Jamil
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1089-1092
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    • 2016
  • Breast cancer is the most commonly occurring and leading cause of cancer deaths among women globally. Hereditary cases account 5-10% of all the cases and CHEK2 is considered as a moderate penetrance breast cancer risk gene. CHEK2 plays a crucial role in response to DNA damage to promote cell cycle arrest and repair DNA damage or induce apoptosis. Our objective in the current study was to analyze mutations in the CHEK2 gene related to breast cancer in Balochistan. A total of 271 individuals including breast cancer patients and normal subjects were enrolled. All 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) had invasive ductal carcinomas (IDCs), 52.1% were diagnosed with tumor grade III and 56.1% and 27.5% were diagnosed with advance stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified in the current study. Both the variants identified were novel and have not been reported elsewhere.

Genetic Susceptibility to Oral Cancer due to Combined Effects of GSTT1, GSTM1 and CYP1A1 Gene Variants in Tobacco Addicted Patients of Pashtun Ethnicity of Khyber Pakhtunkhwa Province of Pakistan

  • Zakiullah, Zakiullah;Ahmadullah, Ahmadullah;Khisroon, Muhammad;Saeed, Muhammad;Khan, Ajmal;Khuda, Fazli;Ali, Sajid;Javed, Nabila;Ovais, Muhammad;Masood, Nosheen;Khalil, Nasir Khan;Ismail, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.3
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    • pp.1145-1150
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    • 2015
  • Associations of GSTT1, GSTM1 and CYP1A1 gene variants with risk of developing oral cancer were evaluated in this study. A case-control study was conducted in Pashtun population of Khyber Pakhtunkhwa province of Pakistan in which 200 hospital based oral cancer cases and 151 population based healthy controls exposed to similar environmental conditions were included. Sociodemographic data were obtained and blood samples were collected with informed consent for analysis. GSTM1 and GSTT1 were analysed through conventional PCR method while specific RT-PCR method was used to detect CYP1A1 polymorphisms. Results were analyzed for conditional logistic regression model by SPSS version 20. The study shows that patients with either GSTM1 or GSTT1 null genotypes have significantly higher risk of oral cancer (adjusted odds (OR): (3.019 (1.861-4.898) and 3.011(1.865-4.862), respectively), which further increased when either one or both null genes were present in combination (adjusted odds (OR): (3.627 (1.981-6.642 and 9.261 (4.495-19.079), respectively). CYP1A1 rs4646903 gene variants individually showed weak association OR: 1.121 (0.717-1.752); however, in the presence of GSTM1 and/or GSTT1 null genotypes further increasing the association (adjusted odds (ORs): 4.576 (2.038-10.273), 5.593 (2.530-12.362) and 16.10 (3.854-67.260 for GSTM/GSTT null and CYP1A1 wild type, GSTM/GSTT either null and CYP1A1 variant alleles, and all 3 gene polymorphisms combinations, respectively). Our findings suggest that presence of GSTM1 and/or GSTT1 null genotypes along with variant alleles of CYP1A1 may be the risk alleles for oral cancer susceptibility in Pashtun population.

Multiple Genes Related to Muscle Identified through a Joint Analysis of a Two-stage Genome-wide Association Study for Racing Performance of 1,156 Thoroughbreds

  • Shin, Dong-Hyun;Lee, Jin Woo;Park, Jong-Eun;Choi, Ik-Young;Oh, Hee-Seok;Kim, Hyeon Jeong;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.6
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    • pp.771-781
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    • 2015
  • Thoroughbred, a relatively recent horse breed, is best known for its use in horse racing. Although myostatin (MSTN) variants have been reported to be highly associated with horse racing performance, the trait is more likely to be polygenic in nature. The purpose of this study was to identify genetic variants strongly associated with racing performance by using estimated breeding value (EBV) for race time as a phenotype. We conducted a two-stage genome-wide association study to search for genetic variants associated with the EBV. In the first stage of genome-wide association study, a relatively large number of markers (~54,000 single-nucleotide polymorphisms, SNPs) were evaluated in a small number of samples (240 horses). In the second stage, a relatively small number of markers identified to have large effects (170 SNPs) were evaluated in a much larger number of samples (1,156 horses). We also validated the SNPs related to MSTN known to have large effects on racing performance and found significant associations in the stage two analysis, but not in stage one. We identified 28 significant SNPs related to 17 genes. Among these, six genes have a function related to myogenesis and five genes are involved in muscle maintenance. To our knowledge, these genes are newly reported for the genetic association with racing performance of Thoroughbreds. It complements a recent horse genome-wide association studies of racing performance that identified other SNPs and genes as the most significant variants. These results will help to expand our knowledge of the polygenic nature of racing performance in Thoroughbreds.

Molecular and Functional Characterization of Monocot-specific Pex5p Splicing Variants, Using OsPex5pL and OsPex5pS from Rice (Oryza sativa)

  • Lee, Jung Ro;Jung, Ji Hyun;Kang, Jae Sook;Kim, Jong Cheol;Jung, In Jung;Seok, Min Sook;Kim, Ji Hye;Kim, Woe Yeon;Kim, Min Gab;Kim, Jae-Yean;Lim, Chae Oh;Lee, Kyun Oh;Lee, Sang Yeol
    • Molecules and Cells
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    • v.23 no.2
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    • pp.161-169
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    • 2007
  • We identified two alternatively spliced variants of the peroxisomal targeting signal 1 (PTS1) receptor protein Pex5ps in monocot (rice, wheat, and barley) but not in dicot (Arabidopsis and tobacco) plants. We characterized the molecular and functional differences between the rice (Oryza sativa) Pex5 splicing variants OsPex5pL and OsPex5pS. There is only a single-copy of OsPEX5 in the rice genome and RT-PCR analysis points to alternative splicing of the transcripts. Putative light-responsive cis-elements were identified in the 5' region flanking OsPEX5L and Northern blot analysis demonstrated that this region affected light-dependent expression of OsPEX5 transcription. Using the pex5-deficient yeast mutant Scpex5, we showed that OsPex5pL and OsPex5pS are able to restore translocation of a model PTS1 protein (GFP-SKL) into peroxisomes. OsPex5pL and OsPex5pS formed homo-complexes via specific interaction domains, and interacted with each other and OsPex14p to form hetero-complexes. Although overexpression of OsPex5pL in the Arabidopsis pex5 mutant (Atpex5) rescued the mutant phenotype, overexpression of OsPex5pS only resulted in partial recovery.

Luteinizing hormone beta gene polymorphism and its effect on semen quality traits and luteinizing hormone concentrations in Murrah buffalo bulls

  • Reen, Jagish Kour;Kerekoppa, Ramesha;Deginal, Revanasiddu;Ahirwar, Maneesh Kumar;Kannegundla, Uday;Chandra, Satish;Palat, Divya;Das, Dayal Nitai;Kataktalware, Mukund Amritrao;Jeyakumar, Sakthivel;Isloor, Shri krishna
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.8
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    • pp.1119-1126
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    • 2018
  • Objective: Present investigation was aimed to study the Single Nucleotide Variants of the luteinizing hormone beta ($LH{\beta}$) gene and to analyze their association with the semen quality (fresh and post-thawed frozen semen) and luteinizing hormone (LH) concentrations in Murrah buffalo bulls. Methods: Polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) and Sanger sequencing method is used to study genetic variability in $LH{\beta}$ gene. LH assay was carried out using enzyme-linked immunosorbent assay method. A fixed general linear model was used to analyze association of single nucleotide polymorphism (SNP) of $LH{\beta}$ gene with semen quality in 109 and LH concentrations in 80 Murrah bulls. Results: $LH{\beta}$ gene was found to be polymorphic. Total six SNPs were identified in $LH{\beta}$ gene g C356090A, g C356113T, g A356701G, g G355869A, g G356330C, and g G356606T. Single Stranded Conformational Polymorphism variants of pattern 2 of exon 1+pattern 2 of exon 2+pattern 1 of exon 3 had highly significant (p<0.01) effect on sperm concentration (million/mL), percent mass motility, acrosome integrity and membrane integrity in fresh and frozen semen whereas significant (p<0.05) effect was observed on percent live spermatozoa. SSCP variants of pattern 2 of exon 1+pattern 2 of exon 2+pattern 1 of exon 3 had highly significant (p<0.01) effect on luteinizing hormone concentrations too. Conclusion: The observed association between SSCP variants of $LH{\beta}$ gene with semen quality parameters and LH concentrations indicated the possibilities of using $LH{\beta}$ as a candidate gene for identification of markers for semen quality traits and LH concentrations in Murrah buffaloes.

BCG-LIKE METHODS FOR SOLVING NONSYMMETRIC LINEAR SYSTEMS

  • Yun, Jae Heon;Joo, Myung Suk
    • Journal of the Chungcheong Mathematical Society
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    • v.8 no.1
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    • pp.55-69
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    • 1995
  • This paper proposes two variants of BCG-like method for solving nonsymmetric linear sytems. It is shown that these new algorithms converge faster and more smoothly than the existing BCG and BiCGSTAB algorithms for problems tested in this paper.

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