• 제목/요약/키워드: single gene analysis

검색결과 908건 처리시간 0.026초

Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

  • Ko, Duck Sung;Lee, Sun-Hee;Park, Chan Woo;Lim, Chun Kyu
    • Clinical and Experimental Reproductive Medicine
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    • 제46권4호
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    • pp.206-210
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    • 2019
  • Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

Molecular cloning and expression analysis of a C-type lectin in the rock bream, Oplegnathus fasciatus

  • Kwon, Mun-Gyeong;Kim, Ju-Won;Park, Myoung-Ae;Hwang, Jee-Youn;Park, Hyung-Jun;Park, Chan-Il
    • 한국어병학회지
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    • 제25권1호
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    • pp.11-20
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    • 2012
  • C-type lectins are crucial for pathogen recognition, innate immunity, and cell-cell interactions. In this study, a C-type lectin gene was cloned from the rock bream. The full-length RbCTL cDNA was 729 bp with a 429 bp ORF encoding a 164-residue protein. The deduced amino acid sequence of RbCTL had all of the conserved features crucial for its fundamental structure, including the four cysteine residues involved in sulfide bridge formation and potential $Ca^2+$/carbohydrate-binding sites. RbCTL contains a signal peptide one single carbohydrate recognition domain. It showed 29.4% similarity to the C-type lectin of rainbow trout. RbCTL mRNA was predominately expressed in gill and head-kidney tissue and expressed less in peripheral blood leukocytes, trunk-kidney, spleen, liver, intestine and muscle. Expression of RbCTL was differentially upregulated in rock bream stimulated with LPS, Con A/PMA and poly I:C.

Recombination Activating Gene 1 Product Alone Possesses Endonucleolytic Activity

  • Kim, Deok-Ryong
    • BMB Reports
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    • 제36권2호
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    • pp.201-206
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    • 2003
  • Two lymphoid-specific proteins, RAG1 and RAG2, are required for the initiation of the V(D)J recombination in vitro. The V(D)J cleavage that is mediated by RAG proteins at the border between the coding and signal sequences results in the production of a hairpin at the coding end and a double-stranded break at the signal end. Two hairpin coding ends are re-opened, modified, and sealed; whereas, the signal ends are directly ligated. Here I report that only RAG1 can carry out a distinct endonucleolytic activity in vitro using an oligonucleotide substrate that is tethered by a short single-stranded DNA. The purified RAG1 protein alone formed a nick at the near position to the recombination signal sequence. This endonucleolytic activity was eliminated by immunoprecipitation using the RAG1-specific antibody, and required the 3'-hydroxy group. All of the RAG1 mutants that were incapable of the nick and hairpin formation in the V(D)J cleavage analysis also showed this new endonucleolytic activity. This suggests that the nicking activity that was observed might be functionally different from the nick formation in the V(D)J cleavage.

황색종 연초 품종의 Gamma선에 의한 돌연변이 유수 및 변이형질의 유전분석 I. 돌연변이 유기 및 변이체의 특징 (Induced Mutant by Gamma Rays and Genetic Analysis for Mutant Characters in Flue-cured Tobacco Variety (Nicotiana tabacum L.) I. Induced Mutations and Characteristics of Mutant)

  • 정석훈;이승철;김홍배
    • 한국연초학회지
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    • 제14권1호
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    • pp.12-23
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    • 1992
  • This experiment was conducted to determine the optimum dosage of gamma rays for inducing artificial mutation of several mutant characters in the flue-cured tobacco. 1) In Hicks and BY 104, the gammarays irradiation has no significantly different effect on seed germination from the control. However, the average dosage for 50% growth inhibition was 25-30kr for all the varieties tested, which inhibition 46-52% and 43-57% of the seedling growths for Hicks and BY 104, respectively. 2) A mutant line 83H-5 was selected from Hicks by irradiation gamma ray at the level of 30kr. It has white flower, more resistance to bacterial wilt, Pssudomonas solanacearum, lower plant and stalk height, narrower leaf width, larger leaf shape index(lento width) and later days to flower when compared with the original variety Hicks. 3) White flower was recessive to pink flower in F, and Br (F1 X Hicks) progenies. F2 population of the cross gave segregation ratio of 3 pink flower:1 white flower, and B, (F1 X 83H-5) Population gave 1:1 ratio. Results showed that the white flower character is governed by a single recessive gene.

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Dexamethasone 투여가 넙치(Paralichthys olivaceus)의 marine birnavirus (MABV) 감염강도에 미치는 영향 (Effects of Dexamethasone on the Burden of Marine Birnavirus (MABV) in Olive Flounder, Paralichthys olivaceus)

  • 권세련;남윤권
    • 한국어류학회지
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    • 제19권2호
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    • pp.88-92
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    • 2007
  • Marine birnavirus (MABV)에 무증상적으로 감염된 넙치 (Paralichthys olivaceus) 치어에 면역억제제의 일종인 Dexamathasone을 투여하였을 때 MABV의 감염강도에 영향을 미치는가를 조사하였다. Real time PCR 분석결과 dexamethasone을 투여한 그룹이 생리식염수를 주사한 그룹 및 no handling 그룹에 비해 유의적으로 낮은 Ct 값을 나타냈으며, 또한 semi-quantitative RT-PCR 분석결과에 있어서도 dexamethasone을 주사한 그룹이 대조구 그룹들에 비해 MABV 유전자가 유의적으로 높게 증폭되는 것으로 나타났다. 이러한 결과로부터 dexamethasone 투여가 넙치 치어에 감염된 MABV의 복제를 증가시킴을 확인하였다.

Association of FABP3 Genotypes and Carcass Characteristics in Pigs

  • Kim, Gye-Woong;Moon, Byung-Sun;Kim, Hack-Youn;Lee, Jong-Wan;Kim, Kon-Joong;Yoo, Jae-Young
    • Journal of Animal Science and Technology
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    • 제55권6호
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    • pp.551-557
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    • 2013
  • This study was conducted to analyze the genotypes and genes of FABP3 (Fatty-acid Binding Protein 3) in pigs using MSPI restriction enzyme and electrophoresis. Analysis of data collected from a total of 210 crossbred pigs (LYD or YLD) in Chungcheongnam-do, Korea, revealed the following. The AA genotypes of FABP3 were detected in the 750 bp and 100 bp bands, while the Aa heterotype appeared in the 850, 750 and 100 bp bands and the aa recessive homotype was detected in a single band of 850 bp. The genotype frequency of AA, Aa and aa was 46.67%, 51.43% and 1.90%, respectively. The genetic equilibrium of this population showed a significant difference (p<0.001) based on a ${\chi}^2$-test. The carcass weight, backfat thickness, marbling score, pH, drip loss, cooking loss, and meat color based on the CIE $L^*$, and $b^*$ values according to genotypes of FABP3 did not differ significantly (p>0.05); however, the CIE $a^*$ values did (p<0.05).

Molecular and Cellular Studies of Seed Storage Proteins from Rice and Wheat

  • Kim, Woo-Taek
    • Applied Biological Chemistry
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    • 제32권1호
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    • pp.64-72
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    • 1989
  • Near full length cDNA clones encoding the rice seed storage protein, prolamine, were isolated and divided into two homology classes based on cross-hybridization and DNA sequencing analysis. These cDNA clones contain a single open reading frame encoding a putative rice prolamine precursor(M.W.=17,200) possessing atypical 14 amino acid signal peptide. Clones of these two homology classes diverge mainly by insertions/deletions of short nucleotide stretches and point mutations. The deduced primary structures of both types of prolamine polypeptides are devoid of any major tandem repetitive sequences, a feature prevalent in other cereal prolamines. No significant homology teas detected between the rice prolamine and other cereal prolamines, indicating that the rice gene evolved from a different ancestor that gave rise to other cereal prolamine genes. Developing wheat and rice endosperms were examined using ultrathin sections prepared from tissues harvested at various days after flowering. By immunocytochemical localization techniques, wheat prolamines are localized within vesicles from Golgi apparatus and in homogeneous regions of protein bodies. The involvement of the goli apparatus in the packaging of wheat prolamines into protein bodies indicates a pathway which differs from the mode of other cereal prolamines and resembles the mechanism employed for the storage of rice glutelin and legume globulins.

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Structural Analysis of Plasmid pCL2.1 from Lactococcus lactis ssp. lactis $ML_8$ and the Construction of a New Shuttle Vector for Lactic Acid Bacteria

  • Jeong, Do-Won;Cho, San-Ho;Lee, Jong-Hoon;Lee, Hyong-Joo
    • Food Science and Biotechnology
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    • 제18권2호
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    • pp.396-401
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    • 2009
  • The nucleotide sequence contains 2 open reading frames encoding a 45-amino-acid protein homologous to a transcriptional repressor protein CopG, and a 203-amino-acid protein homologous to a replication protein RepB. Putative countertranscribed RNA, a double-strand origin, and a single-strand origin were also identified. A shuttle vector, pUCL2.1, for various lactic acid bacteria (LAB) was constructed on the basis of the pCL2.1 replicon, into which an erythromycin-resistance gene as a marker and Escherichia coli ColE1 replication origin were inserted. pUCL2.1 was introduced into E. coli, Lc. lactis, Lactobacillus (Lb.) plantarum, Lb. paraplantarum, and Leuconostoc mesenteroides. The recombinant LAB maintained traits of transformed plasmid in the absence of selection pressure over 40 generations. Therefore, pUCL2.1 could be used as an E. coli/LAB shuttle vector, which is an essential to engineer recombinant LAB strains that are useful for food fermentations.

Molecular Cloning of a Cellulase Gene from Abalone Haliotis discus hannai and Its Expression in E coli

  • Park, Eun-Mi;Han, Yun-Hee;Park, In-Suk;Nam, Bo-Hye;Kong, Hee Jeong;Kim, Woo-Jin;Lee, Sang-Jun;Kim, Young-Ok
    • 한국해양바이오학회지
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    • 제2권2호
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    • pp.108-112
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    • 2007
  • A cellulase (endo-${\beta}$-1,4-D-glucanase(E.C.3.2.1.4)) was isolated from the hepatopancreas of abalone Haliotis discus hannai by EST analysis. The abalone cellulase named HdEG compassed 1977 bp, including 195 bp in the 5'untranslated region, 1680 bp in the open reading frame which encodes 560 amino acid residues, and 92 bp in the 3'-untranslated region. The C-terminal region of the HdEG showed 44-52% identity to the catalytic domains of glycoside hydrolase family 9 (GHF9)-cellulases from arthropods and bacteria. The recombinant cellulase, pEHdEG was produced in E. coli with being fused with C-terminal His-tag. The expressed protein showed a single band (~62 kDa) on Western blotting which was consistent with the value (61,878 Da) calculated from the DNA sequence.

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Isolation and Identification of Photosynthetic Bacterium Useful for Wastewater Treatment

  • Choi, Han-Pil;Kang, Hyun-Jun;Seo, Ho-Chan;Sung, Ha-Chin
    • Journal of Microbiology and Biotechnology
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    • 제12권4호
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    • pp.643-648
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    • 2002
  • For wastewater treatment and utilization of the biomass, a photosynthetic bacterium was isolated based on its cell growth rate, cell mass, and assimilating ability of organic acids. The isolate was a Gram-negative rod-shaped bacterium that contained a single polar flagellum and formed a lamellar intracytoplasmic membrane (ICM) system, including bacteriochlorophyll $\alpha$. The major isoprenoid quinone component was identified as ubiquinone Q-10, and the fatty acid composition was characterized as to contain relatively large amount of C-16:0 (18.74%) and C-18:1 (59.23%). Based on its morphology, phototrophic properties, quinone component, and fatty acid composition, the isolate appeared to be closely related to the Rhodopseudomonas subgroup of purple nonsulfur bacteria. A phylogenetic analysis of the isolate using its 16S rRNA gene sequence data also supported the phenotypic findings, and classified the isolate closely related to Rhodopseudomonas palustris. Accordingly, the nomenclature of the isolate was proposed as Rhodopseudomonas palustris KUGB306. A bench-scale photosynthetic bacteria (PSB) reactor using the isolate was designed and operated for the treatment of soybean curd wastewater.