• 제목/요약/키워드: genotyping

검색결과 725건 처리시간 0.03초

Human G-Protein ${\beta}3$ Subunit C825T Polymorphism is Associated with Serum Total Cholesterol and LDL-Cholesterol Levels in Koreans

  • Kang, Byung-Yong;Kang, Chin-Yang;Lee, Kang-Oh
    • Animal cells and systems
    • /
    • 제9권2호
    • /
    • pp.95-100
    • /
    • 2005
  • Essential hypertension results from the complex interaction between genetic and environmental factors. A C825T polymorphism of the gene encoding G-protein ${\beta}3$ subunit (GNB3), associated with enhanced G-protein coupled signaling and increased $Na^+-H^+$ exchanger, has been implicated in the development of essential hypertension in several human populations, especially in Caucasian population. We examined the disease relevance of this candidate gene by performing an association study in a study group of Korean heritage. Participants comprised 109 essential hypertensives and 109 normotensives, respectively. Genotyping was performed with PCR-BsaJI restriction digestion method. Observed genotype frequencies were in Hardy-Weinberg equilibrium in all groups. Genotype and allele frequencies did not differ significantly between normotensives and essential hypertensives (P>0.05). However, the serum total cholesterol (TC) and LDL-cholesterol levels were significantly higher in subjects with the TT genotype compared to those with the CC or CT genotypes in normotensives of our study subjects (P<0.05). Thus, these results suggest that GNB3/C825T polymorphism might be significantly associated with abnormality in serum lipid metabolism.

PFGE를 이용한 경북지역에서 분리된 Brucella abortus의 유전형별 (Genotyping of Brucella abortus isolated in Gyeongbuk province by PFGE)

  • 조민희;김성국;김영환;김순태;엄현정;장영술;고영활
    • 한국동물위생학회지
    • /
    • 제32권3호
    • /
    • pp.257-264
    • /
    • 2009
  • Subtyping of Brucella abortus isolates is epidemiologically important for monitoring of bovine brucellosis outbreaks. Pulsed-field gel electrophoresis (PFGE) is considered as a gold standard of molecular typing methods to study the DNA polymorphisms of bacteria. In this study, we analyzed using PFGE the DNA fragment profiles of B. abortus isolated in Gyeongbuk province from 1998 to 2006. The genomic DNA was digested with the restriction endonuclease Xba I, Xho I and Smi I followed gel electrophoresis. No distinguishable patterns of the genomic DNA digested with Xba I and Xho I were observed among the field isolates of B. abortus tested in this study. But Smi I restriction enzyme resulted in two PFGE patterns consisting of 13-15 bands that ranged in size from 33 to 668bp by standard marker. The cluster analysis by DNA fingerprinting software showed 93.75% similarity between two PFGE patterns. No different PFGE patterns were recognized among the isolates originated from various years, regions and cow breeds.

Development and validation of microsatellite markers for the endangered red-spotted apollo butterfly, Parnassius bremeri (Lepidoptera: Papilionidae), in South Korea

  • Kim, Min Jee;Jeong, Su Yeon;Kim, Sung Soo;Kim, Iksoo
    • International Journal of Industrial Entomology and Biomaterials
    • /
    • 제35권1호
    • /
    • pp.30-38
    • /
    • 2017
  • The red-spotted apollo butterfly, Parnassius bremeri Bremer, 1864 (Lepidoptera: Papilionidae), is an endangered species in South Korea. Development and application of molecular markers to assess population genetics perspectives can be used as a basis to establish effective conservation strategies. In this study, we developed 12 microsatellite markers specific to P. bremeri using Illumina paired-end sequencing and applied the markers to South Korean populations to understand population characteristics. Genotyping of 40 P. bremeri individuals from three localities showed that at each locus, the observed number of alleles ranged from 6 to 22 and the observed and expected heterozygosities were 0.500-1.00 and 0.465 to 0.851, respectively. Significant deviation from the Hardy-Weinberg equilibrium was not observed in all loci studied. The population based $F_{ST}$ and $R_{ST}$ collectively suggest that at least the Samcheok population in northernmost Gangwon Province has a significant divergence from the remaining two populations (P < 0.01), and this result is also reflected in the forewing length. Further studies with an increased sample size will be necessary to draw robust conclusions and devise conservation strategies.

Implication of Polymorphisms in DNA Repair Genes in Prognosis of Hepatocellular Carcinoma

  • Yue, Ai-Min;Xie, Zhen-Bin;Guo, Shu-Ping;Wei, Qi-Dong;Yang, Xiao-Wei
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제14권1호
    • /
    • pp.355-358
    • /
    • 2013
  • XRCC1 genetic polymorphisms could be associated with increased risk of various cancer, including hepatocellular carcinoma (HCC), the fifth most common cancer. We here conducted a study to explore the role of selective SNPs of the XRCC1 and XPD genes in the prognosis of HCC. A total of 231 cases were collected, and genotyping of XRCC1 Arg194Trp, XRCC1 Arg399Gln, XPD Lys751Gln and XPD Asp312Asn was performed by duplex polymerase-chain-reaction with the confronting-two-pair primer method. Our findings indicated XRCC1 399Gln/Gln genotype was associated with a significant difference in the median survival time compared with patients carrying Arg/Trp and Arg/Arg genotypes, and individuals with XPD 751 Gln/ Gln genotype had a significantly greater survival time than patients carrying Lys/Lys and Lys/Gln genotypes. The Cox's regression analysis showed individuals carrying XRCC1 399Trp/Trp genotype had 0.55 fold risk of death from HCC than Arg/Arg genotype. Similarly, XPD 751Gln/Gln had a strong decreasein comparison to XPD Lys/Lys carriers with an HR of 0.34. These results suggest that polymorphisms in XRCC1 and XPD may have functional significance in the prognosis of HCC.

Salmonella othmarschen에 의한 집단식중독사례의 분자역학적 분석 (Molecular Epidemiological Analysis of Outbreaks to Pathogenic Salmonella othmarschen Using PFGE)

  • 방선재;박광희;박명기;권연옥;고환욱
    • 한국환경보건학회지
    • /
    • 제34권2호
    • /
    • pp.170-174
    • /
    • 2008
  • The strains of Salmonella othmarschen and Norovirus isolated from outbreak A, the funeral ceremonies incidents in Ouri-shi of Oyeonggido in, 2007, were subjected to genotyping by using PFGE and extraction of RNA by using RT-PCR. 24 Salmonella othmarschen were isolated from 37 cases (patients 12 cases, cookers 4 cases, foods 7cases, knife, kitchen board, dish towel 4 cases, etc) and PFGE patterns showed that 22 strains isolated from the same incident were almost of the same pattern and 2 strains exhibited 50% of the pattern. Antimicrobial susceptibility patterns were such that there were 22 case susceptibility patterns and 2 case resistance patterns (strain 4: AM, CF, CIP, NA, TE TIC and strain 13: CF, CZ). Norovirus G1 (1case), Norovirus G2 (7cases), Norovirus G1,G2 (1case) were detected by using RT-PCR. The fine typing ability and reliability of PFGE and BioNumerics are helpful for establishing out the foodborne pathogens of outbreaks.

A DNA Microarray LIMS System for Integral Genomic Analysis of Multi-Platform Microarrays

  • Cho, Mi-Kyung;Kang, Jason Jong-ho;Park, Hyun-Seok
    • Genomics & Informatics
    • /
    • 제5권2호
    • /
    • pp.83-87
    • /
    • 2007
  • The analysis of DNA microarray data is a rapidly evolving area of bioinformatics, and various types of microarray are emerging as some of the most exciting technologies for use in biological and clinical research. In recent years, microarray technology has been utilized in various applications such as the profiling of mRNAs, assessment of DNA copy number, genotyping, and detection of methylated sequences. However, the analysis of these heterogeneous microarray platform experiments does not need to be performed separately. Rather, these platforms can be co-analyzed in combination, for cross-validation. There are a number of separate laboratory information management systems (LIMS) that individually address some of the needs for each platform. However, to our knowledge there are no unified LIMS systems capable of organizing all of the information regarding multi-platform microarray experiments, while additionally integrating this information with tools to perform the analysis. In order to address these requirements, we developed a web-based LIMS system that provides an integrated framework for storing and analyzing microarray information generated by the various platforms. This system enables an easy integration of modules that transform, analyze and/or visualize multi-platform microarray data.

미생물 동정을 위한 프로브와 프라이머 고안 시스템의 개발 (Development of Primer and Probe Design System for Microbial Identification)

  • Park, Jun-Hyung;Kang, Byeong-Chul;Park, Hee-Kyung;Jang, Hyun-Jung;Song, Eun-Sil;Lee, Seung-Won;Kim, Hyun-Jin;Kim, Cheol-Min
    • 한국생물정보학회:학술대회논문집
    • /
    • 한국생물정보시스템생물학회 2004년도 The 3rd Annual Conference for The Korean Society for Bioinformatics Association of Asian Societies for Bioinformatics 2004 Symposium
    • /
    • pp.21-28
    • /
    • 2004
  • 모든 생명체의 genetic information에는 보존적 염기서열과 다형적 염기서열이 존재한다. 다형적 염기서열과 보존적 염기서열은 하나의 종(species)을 감별하거나, 여러 종류의 종을 동시에 감별할 수 있는 genotyping의 표지자로 각각 이용될 수 있다. 본 논문은 병원성 감염질환 세균, 식중독 유발 세균, 생물의약품 오염 유발 세균 및 환경오염 세균 등 세균의 존재 유무와 속과 종 감별을 위해 대부분 세균 종의 보존적 염기서열과 다형적인 염기서열을 포함하고 있는 23S rDNA 유전자의 표적 염기 서열로부터 고안된 세균 특이적(bacterial-specific), 속 특이적(genus-specific), 종 특이적(species-specific) 올리고 뉴클레오티드프로브와 프라이머를 디자인하는 시스템을 소개한다. 시스템을 통해서 얻어진 프로브와 프라이머들은 PCR을 통한 검증단계를 거쳐서 디자인 결과의 정확성을 확인하였다. 본 시스템의 이용으로 프로브와 프라이머를 디자인하는데 몇 주가 소요되는 시간을 몇 일 내로 줄일 수 있었으며, 체계적인 데이터의 관리로 결과의 정확성을 높일 수 있었다.

  • PDF

Different Real Time PCR Approaches for the Fine Quantification of SNP's Alleles in DNA Pools: Assays Development, Characterization and Pre-validation

  • Mattarucchi, Elia;Marsoni, Milena;Binelli, Giorgio;Passi, Alberto;Lo Curto, Francesco;Pasquali, Francesco;Porta, Giovanni
    • BMB Reports
    • /
    • 제38권5호
    • /
    • pp.555-562
    • /
    • 2005
  • Single nucleotide polymorphisms (SNPs) are becoming the most common type of markers used in genetic analysis. In the present report a SNP has been chosen to test the applicability of Real Time PCR to discriminate and quantify SNPs alleles on DNA pools. Amplification Refractory Mutation System (ARMS) and Mismatch Amplification Mutation Assay (MAMA) has been applied. Each assay has been pre-validated testing specificity and performances (linearity, PCR efficiency, interference limit, limit of detection, limit of quantification, precision and accuracy). Both the approaches achieve a precise and accurate estimation of the allele frequencies on pooled DNA samples in the range from 5% to 95% and don't require standard curves or calibrators. The lowest measurement that could be significantly distinguished from the background noise has been determined around the 1% for both the approaches, allowing to extend the range of quantifications from 1% to 99%. Furthermore applicability of Real Time PCR assays for general diagnostic purposes is discussed.

DNA Polymorphism Analysis of the HLA-DRB1 Gene Using Polymerase Chain Reaction-Sequence Specific Primer (PCR-SSP) among Korean Subjects

  • Lee, Kyung-Ok;Park, Taek-Kyu;Park, Young-Suk;Oh, Moon-Ju;Kim, Yoon-Jung
    • BMB Reports
    • /
    • 제29권1호
    • /
    • pp.45-51
    • /
    • 1996
  • Most expressed HLA loci exhibit a remarkable degree of allelic polymorphism, which derives from sequence differences predominantly localized to discrete hypervariable regions of the amino-terminal domain of the molecule. In this study, the HLA-DRB1 genotypes were determined in eighteen control cell lines and 112 unrelated Koreans using the PCR-SSP (Polymerase Chain Reaction-Sequence Specific Primer) technique. 29 specific primer pairs in assigning the DRB1 gene were used. The results of control cells correlated well with the data which was previously reported. The heterozygosity and homozygosity of the DRB1 gene were 0.786 and 0.214, respectively. In a total of 41 different DRB1 alleles and 83 genotypes, the most frequent allele and genotype were DRB1*04 and DRB1*0901/1501, respectively. This study shows that the PCR-SSP technique is relatively simple, fast and a practical tool for the determination of the HLA-DRBI genotypes. Moreover, these results-allele and genotype frequency and heterozygosity of the HLA DRB1 gene-could be useful for database study before being applied to individual identification and transplantation immunity.

  • PDF

A Simple and Rapid Gene Amplification from Arabidopsis Leaves Using AnyDirect System

  • Yang, Young-Geun;Kim, Jong-Yeol;Soh, Moon-Soo;Kim, Doo-Sik
    • BMB Reports
    • /
    • 제40권3호
    • /
    • pp.444-447
    • /
    • 2007
  • Polymerase chain reaction (PCR) is a powerful technique in molecular biology and is widely used in various fields. By amplifying DNA fragments, PCR has facilitated gene cloning procedures, as well as molecular genotyping. However, the extraction of DNA from samples often acts as a limiting step of these reactions. In particular, the extraction of PCR-compatible genomic DNA from higher plants requires complicated processes and tedious work because plant cells have rigid cell walls and contain various endogenous PCR inhibitors, including polyphenolic compounds. We recently developed a novel solution, referred to as AnyDirect, which can amplify target DNA fragments directly from whole blood without the need for DNA extraction. Here, we developed a simple lysis system that could produce an appropriate template for direct PCR with AnyDirect PCR buffer, making possible the direct amplification of DNA fragments from plant leaves. Thus, our experimental procedure provides a simple, convenient, non-hazardous, inexpensive, and rapid process for the amplification of DNA from plant tissue.