• 제목/요약/키워드: polymorph isms

검색결과 29건 처리시간 0.026초

D2GSNP: a web server for the selection of Single Nucleotide Polymorphisms within human disease genes

  • Kang Hyo-Jin;Hong Tae-Hui;Chung Won-Hyong;Kim Young-Uk;Jung Jin-Hee;Hwang So-Hyun;Han A-Reum;Kim Young-Joo
    • Genomics & Informatics
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    • 제4권1호
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    • pp.45-47
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    • 2006
  • D2GSNP is a web-based server for the selection of single nucleotide polymorph isms (SNPs) within genes related to human diseases. The D2GSNP is based on a relational database created by downloading and parsing OMIM, GAD, and dbSNP, and merging it with positional information of UCSC Golden Path. Totally our server provides 5,142 and 1,932 non-redundant disease genes from OMIM and GAD, respectively. With the D2GSNP web interface, users can select SNPs within genes responding to certain diseases and get their flanking sequences for further genotyping experiments such as association studies.

RAPD마커를 이용한 황기의 유전적 다양성 및 기원판별 (Genetic Diversity and Discrimination of Astragalus Membranaceus Bunge and A. Membranaceus var. Mogholicus Using RAPD Markers)

  • 방경환;허만규;조준형
    • 동의생리병리학회지
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    • 제18권3호
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    • pp.825-829
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    • 2004
  • This study was carried out to differentiate the origins of Astragalus membranaceus Bunge and A. membranaceus Bunge var. mogholicus Nakai. To identify the variation of the RAPD patterns between domestic and foreign Astragalus species, 40 random primers were applied to ten accessions of A. membranaceus and six accessions of A. membranaceus var. mogholicus genomic DNA, respectively, Ten primers of 40 primers could be used to discriminate the origins and 33 polymorph isms among 44 scored DNA fragments (33 fragments are specific for A. membranaceus and A. membranaceus var. mogholicus) were generated using these primers, 75.0 % of which were polymorphic. Especially, three primers of ten primers, OPA17, OPA11 and OPB11, were useful to differentiate between domestic and foreign Astragalus species. RAPD data from the 10 primers were used for cluster analysis and cluster analysis of RAPD markers showed that the two groups are distinct genetically. Consequently, RAPD analysis was a useful method to discriminate between A. membranaceus and A. membranaceus var. mogholicus.

Genetic diversity in merozoite surface protein(MSP)-1 and MSP-2 genes of Plasmodium falciparum in a major endemic region of Iran

  • Heidari Aliehsan;Keshavarz Hossein;Rokni Mohammad B.;Jelinek Tomas
    • Parasites, Hosts and Diseases
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    • 제45권1호
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    • pp.59-63
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    • 2007
  • Merozoite surface protein-1(MSP-1) and merozoite surface protein-2(MSP-2) were used to develop vaccines and to investigate the genetic diversity in Plasmodium falciparum malaria in Iran. Nested polymerase chain reaction amplification was used to determine polymorph isms of block 2 of the MSP-1 and the central domain of MSP-2 genes. A total of 67 microscopically positive P. falciparum infected individuals from a major endemic region, southeast Iran, were included in this trial. Nine alleles of MSP-1 and 11 alleles of MSP-2 were identified. The results showed that amplified product from these surface antigen genes varied in size and there was specific pattern for each isolate. Besides, regarding this pattern, 23 multiple infections with at least 2 alleles were observed. While the endemic regions of malaria in Iran is classified in low to moderate group, but extensive polymorphism was observed for each marker and the MSP-2 central repeat was the most diverse that could be considered in designing malaria vaccine.

한국인 집단에서 심방 나트륨 이뇨 펩티드 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관한 연구 (Association Study between the Genetic Variants of the Human Atrial Natriuretic Peptide Gene and Essential Hypertension in Korean Population)

  • 배준설;강병용;이강오;이승택
    • Toxicological Research
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    • 제22권2호
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    • pp.69-74
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    • 2006
  • Hypertension leads to major health problems in many industrialized countries, and multiple etiologic factors are involved in the pathogenesis of this disorder. The genetic components of the natriuretic peptide system might be involved in the pathogenesis of hypertension. In this regard, the atrial natriuretic peptide (ANP) gene has been proposed as a candidate hypertension gene. Therefore, we investigated the G1837A and C-664G polymorphisms of the ANP gene in 143 Korean normotensives and 118 hypertensives. There were no significant differences in the genotype and allele frequencies between the two groups. Although the frequencies in each of these polymorph isms were not significantly different between normotensives and hypertensives, our results provide additional ethnic information for linkage analysis and associated studies of this disorder with cardiovascular disease.

Authentication of Salted-dried Fish Species Using Polymerase Chain Reaction-Single Strand Conformational Polymorphism and Restriction Analysis of Mitochondrial DNA

  • Kim, Joo-Shin;Chu, Kin Kan Astley;Kwan, Hoi Shan;Chung, Hau Yin
    • Fisheries and Aquatic Sciences
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    • 제11권3호
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    • pp.133-139
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    • 2008
  • Molecular techniques, including restriction fragment length polymorphism(RFLP) and polymerase chain reaction-single strand conformational polymorph isms(PCR-SSCP), were developed to identify salted, dried threadfin(Eleutheronema tetradactylum) and white herring(Ilisha elongata) fish. Using PCR with universal primers, conserved 367-bp fragments of the cytochrome b gene were amplified from fresh fish samples and sequenced. The sequences were then searched for specific restriction sites. The digestion of the PCR products with the endonucleases AvaI, FokI, MboII, and MspI generated RFLP, which was used to identify the commercial products. Similarly, the amplified PCR-SSCP products were developed and the products tested. Overall, similar patterns were found in the majority of the fresh and processed products. Based on the results, both RFLP and PCR-SSCP were useful in determining and validating the authenticity of the fish species used to prepare the commercial salted, dried products. A similar approach can be applied to other species.

Genetic Polymorphisms in Drug Transporters and Regulatory Xenobiotic Receptors in Korean Population

  • Lee, Sang-Seop;Shin, Jae-Gook
    • 한국독성학회:학술대회논문집
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    • 한국독성학회 2004년도 춘계학술대회
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    • pp.27-29
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    • 2004
  • Drug transporters play an essential role in the absorption, distribution and elimination of clinical drugs, nutrients and toxicants. The importance of the transporters is exampled by therapeutic failure in cancer chemotherapy that is mainly caused by the overexpression of multidrug resistance (MDR)-related transporters. In addition, the transporters may involve in drug-drug interactions that lead to serious adverse drug responses and some transporters also contribute to inter-individual variation in drug responses. As an effort to understand the mechanism underlying the inter-individual variation of transporters activity, genetic and environmental factors influencing the expression or function of the transporters have extensively explored through last decade. Among them, genetic polymorphism of drug transporter encoding genes has generated much interest since the discovery of functional single nucleotide polymorphisms (SNP) of MDRl gene. Besides drug transporters, xenobiotic receptors also modulate drug disposition by regulating the transcription of drug metabolizing enzymes and drug transporters. Among many xenobiotic receptors, pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are two most well characterized since these receptors show wide substrate specificities and regulate the expression of various enzymes involved in drug disposition. Recently, several functional genetic polymorphisms were reported in PXR coding gene. In the present study, genetic polymorph isms of two drug transporters, MDR1 and BCRP, and two xenobiotic receptors, PXR and CAR, were investigated in Korean population.

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벼 일품벼/모로베레칸 조합의 이입계통을 이용한 내건성 유전자 탐지 (Mapping QTLs for drought tolerance using an introgression line population from a cross between Ilpumbyeo and Moroberekan in rice)

  • 강주원;구홍광;양바오로;안상낙
    • 농업과학연구
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    • 제38권2호
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    • pp.199-204
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    • 2011
  • This study was conducted to map quantitative trait loci (QTLs) related to drought stress tolerance. An introgression line population derived from a cross, "Ilpum" / "Moroberekan" was used in this study. $F_1$ plants were backcrossed three times to Ilpum to produce $BC_3F_1$ plants. These plants were advanced by selfing for four generation and a total of 117 $BC_3F_5$ introgression lines were developed. These lines were evaluated for percent seed set and spikelets per panicle under the control (field) and drought condition. To identify QTLs related to drought tolerance, 134 SSR markers showing polymorph isms between the parents were genotyped for the 117 $BC_3F_5$ lines. A total of 6 QTLs associated with drought stress were detected on chromosomes 1, 3, 4, 7 and 10. These include two QTLs for phenotypic acceptability, two QTLs for percent seed set ($R^2$ = 19.0 - 20.9%), and two QTLs for spikelets per panicle ($R^2$ = 22.3 - 23.10%). The Moroberekan alleles at three loci contributed the positive effect for drought tolerance. The SSR markers linked to drought stress tolerance can not only facilitate the selection of valuable genes from Moroberekan, but also allow identification of lines with drought tolerance.

STAT6 Gene Polymorphisms in Allergic Rhinitis

  • Kim, Jeong Joong;Kim, Min Su;Lee, Jung Hun;Choi, Tae Wook;Choi, Sang Heon;Lee, Jae Hoon;Chung, Hun Taeg
    • Genomics & Informatics
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    • 제2권3호
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    • pp.126-130
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    • 2004
  • T helper-type 2 cytokines, such as IL-4 and IL-13, may play a central role in allergic diseases. The protein known as signal transducers and activators of transcription 6 (STAT6) is a key transcription factor involved in both IL-4- and -13-mediated biological responses. Two polymorphisms of the STAT 6 gene (exon 1 and G2964A variant) have been found. We investigated whether these STAT6 gene polymorph isms were associated with allergic rhinitis. Blood samples for genetic analysis were obtained from 285 individuals with allergic rhinitis and from 271 healthy subjects without atopic disease. The G2964A variant of the STAT6 gene was genotyped using PCR-RFLP analysis. The GT repeat polymorphism in exon 1 of the STAT6 gene was genotyped by fragment analysis. There was no association between the 2964A variant and GT repeat polymorphism in exon 1 of the STAT6 and allergic rhinitis in a Korean population (both p > 0.05). Our results suggest that a combination of STAT6 gene polymorphisms is not a useful marker for predicting allergic rhinitis.

Selection and Characterization of S-Aminoethyl-L-Cysteine Resistant Plants from Gamma-ray Irradiated Embryogenic Callus in Sweet potato

  • Lee In-Sok;Kim Dong-Sub;Hong Chang-Pyo;Kang Si-Yong;Song Hi-Sup;Lee Sang-Jae;Lim Yong-Pyo;Lee Young-Il
    • Journal of Plant Biotechnology
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    • 제5권4호
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    • pp.233-238
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    • 2003
  • Sweet potato cells derived from Yulmi were isolated from embryogenic callus and irradiated with 50 Gy dose. Resistant cells were selected on a MS medium containing 1.0 mM S-aminoethyl-L-cysteine (AEC). This level of AEC approximately inhibits non-selected wild type cells. The callus resistant to this analog of lysine was subcultured for 30 days in absence of AEC to proliferate. The three resistant calli (AR-1, AR-2 and AR-3) with better growth were divvied into 0.5~1mm diameter and placed on MS medium with 0, 0.4, 0.6, 0.8 and 1.0 mM AEC. There are considerable growth difference between control callus and AEC resistant callus on the AEC-medium. The selected calli were placed on the hormone-free medium for regeneration. Three plantlets, five plantlets and six plantlets were recovered from AR-1, AR-2 and AR-3 calli, respectively. Each two regenerants in AR-1, AR-2 and AR3 were randomly selected for RAPD and SDS PAGE analysis. RAPD polymorph isms between Yulmi and AEC resistant plant from irradiated calli were detected in several Wako primers. Also, it was identified that two AEC resistant plants had higher protein than the original variety Yulmi.

Association Analysis between Polymorph isms of NOTCH4 Gene and Schizophrenia in Korean Population

  • Lee, Seo-Kyong;Kang, Sung-Wook;Kim, Su-Kang;Kim, Hak-Jae;Kim, Tae;Park, Jin-Kyung;Cho, Ah-Rang;Kim, Jong-Woo;Park, Hyun-Kyung;Kim, Youn-Jung;Choe, Bong-Keun;Song, Ji-Young
    • Molecular & Cellular Toxicology
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    • 제5권2호
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    • pp.160-164
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    • 2009
  • Notch signaling plays a crucial role in development of the nervous system. Neurodevelopmental hypothesis on etiology of schizophrenia has been implicated. The aim of this study is to determine whether single nucleotide polymorphisms (SNPs) of Notch homolog 4 (Drosophila) (NOTCH4) gene are associated with schizophrenia. This study included 283 schizophrenia patients diagnosed according to DSM-IV and 301 normal control subjects. Control subjects without history of psychiatric disorders were recruited. Four missense SNPs [rs915894 (exon 3, Lys117Gln), rs2071282 (exon 4, Pro204Leu), rs422951 (exon 6, Thr320Ala), and rs17604492 (exon 18, Gly942Arg)] of NOTCH4 gene were genotyped by the direct sequencing method. Multiple logistic regression models (codominant, dominant, and recessive models) were employed to evaluate odds ratio, 95% confidence interval, and p value. For analysis of genetic data, SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were also used. Of 4 SNPs, rs2071282 was weekly associated with schizophrenia in two alternative models (codominant model, P=0.049; dominant, P=0.041). However, these associations were not significant after Bonferroni correction. At 4 SNPs, one linkage disequilibrium (LD) block was made. This block consisted of rs915894 and rs2071282. In haplotype analysis, AC haplotype was weakly associated with schizophrenia (dominant, P=0.04). This association was disappeared after Bonferroni correction. Our result shows possibility that some SNPs of NOTCH4 gene may be weekly associated with development of schizophrenia in Korean population. However, replication result by other population will be needed.