• Title, Summary, Keyword: Phenotype

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A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

  • Algahtani, Hussein;Shirah, Bader
    • Journal of Genetic Medicine
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    • v.14 no.2
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    • pp.71-74
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    • 2017
  • Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy, which were reported to be caused by mutations in exon 21. The second phenotype includes hereditary sensory and autonomic neuropathy type 1E, which was suggested to be caused by mutations in exon 20 and 21. In this article, we report a novel heterozygous missense variant c.898A>C, p.(Lys300Gln) in exon 12 of DNMT1 in a young woman who presented with pure cerebellar ataxia. This report indicates that a mutation in exon 12 may lead to pure cerebellar ataxia. Another possibility is that the patient is currently in an early stage of the disease, and as the disease progresses, she will have more manifestations. To confirm or exclude this possibility, a subsequent follow-up study reporting the disease progression in this patient may be needed. Further reports of cases with the same mutation are needed to confirm the phenotype of this mutation.

Respiratory Reviews in Asthma 2013

  • Kim, Tae-Hyung
    • Tuberculosis and Respiratory Diseases
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    • v.76 no.3
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    • pp.105-113
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    • 2014
  • From January 2012 up until March 2013, many articles with huge clinical importance in asthma were published based on large numbered clinical trials or meta-analysis. The main subjects of these studies were the new therapeutic plan based on the asthma phenotype or efficacy along with the safety issues regarding the current treatment guidelines. For efficacy and safety issues, inhaled corticosteroid tapering strategy or continued long-acting beta agonists use was the major concern. As new therapeutic trials, monoclonal antibodies or macrolide antibiotics based on inflammatory phenotypes have been under investigation, with promising preliminary results. There were other issues on the disease susceptibility or genetic background of asthma, particularly for the "severe asthma" phenotype. In the era of genome and pharmacogenetics, there have been extensive studies to identify susceptible candidate genes based on the results of genome wide association studies (GWAS). However, for severe asthma, which is where most of the mortality or medical costs develop, it is very unclear. Moreover, there have been some efforts to find important genetic information in order to predict the possible disease progression, but with few significant results up until now. In conclusion, there are new on-going aspects in the phenotypic classification of asthma and therapeutic strategy according to the phenotypic variations. With more pharmacogenomic information and clear identification of the "severe asthma" group even before disease progression from GWAS data, more adequate and individualized therapeutic strategy could be realized in the future.

Analysis of Genotype and Phenotype of Erythromycin Resistance in Enterococci spp. Isolated from Raw Milk Samples (원유시료에서 분리한 장구균의 에리스로마이신 내성 유전자형 및 표현형 분석)

  • Lee, Hye-In;Jung, Jae-Hyuk;Lee, Sang-Jin;Choi, Sung-Sook
    • Korean Journal of Microbiology
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    • v.46 no.2
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    • pp.148-151
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    • 2010
  • The aim of this study was to investigate the erythromycin resistance patterns of Enterococci sp. present in cow milk. A total 110 erythromycin resistant Enterococci were isolated from milk samples; E. faecalis (n=101), E. avium (n=7), and E. durans (n=2). The minimum inhibitory concentration of erythromycin against 110 Enterococci were determined. The 66.3% of Entercocci (n=73) showed high level resistance (${\geq}64$ mg/ml). Among 110 isolates, 86.3% (n=95) showed $cMLS_B$ phenotype and 13.6% (n=15) showed $iMLS_B$ The aim of this study was to investigate the erythromycin resistance patterns of Enterococci sp. present in cow milk. A total 110 erythromycin resistant Enterococci were isolated from milk samples; E. faecalis (n=101), E. avium (n=7), and E. durans (n=2). The minimum inhibitory concentration of erythromycin against 110 Enterococci were determined. The 66.3% of Entercocci (n=73) showed high level resistance (${\geq}64$ mg/ml). Among 110 isolates, 86.3% (n=95) showed $cMLS_B$ phenotype and 13.6% (n=15) showed $iMLS_B$ phenotype. All of isolates have erm(B) determinant, 75.45% (n=83) have mef(A) an efflux system determinant. The majority of Enetrcococci isolated from raw milk samples in northern area of Gyeonggi-Do showed high level of resistance to erythromycin.

Immunogenetic Study on the IgG Subclass Responses in the Phenotypic Subsets of the Early-Onset Periodontitis (조기발병형 치주염환자의 표현형에 따른 IgG subclass에 따른 면역 유전학적 연구)

  • Choi, Jeom-Il;Kim, Jun-Hong;Ha, Mi-Hye;Kim, Sung-Jo
    • Journal of Periodontal and Implant Science
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    • v.29 no.3
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    • pp.655-664
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    • 1999
  • 본 논문은 조기발병형 치주염에 이환된 환자의 immunoglobulin allotype markers(Gm)에 대한 연구를 한 것이다. 원래 이전의 논문에서 Porphyromonas gingivalis(Pg)에 대한 항체 역가를 측정하기위해 선택되었던 환자로 이는 subform I(distinctive localized juvenile periodontitis(LIP) pattern)으로부터 3명, subtype II(post-LJP pattern)으로부터 19명, subform III(localized but rapidly progressing pattern)으로부터 15명 그리고 subform Ⅳ(distinctive rapidly pregressing periodontitis(RPP)으로부터 24명을 추출하여 구성하였고, 각각 인종과 나이에 맞게 50명의 대조군을 구성했다. Gm type은 hemagglutination inhibition assay; b0b1b3b5, G3m(s), G3m(t)를 포함한 G1m(a), G1m(x), G1m(f), G2m(n), G3m(g), G3m(b)로 확인했었다. 관찰되어진 Gm haplotypes의 도수는 각각의 EOP subform에 따라 계산되었고 Gm phenotype은 각 환자에서 발견된 증가된 IgG subclass responses의 다양성에 따라 구분했다. 환자들 중에서 관찰된 9개의 Gm phenotype 은 4개의 Gm haplotype으로 나타났다. subform Ⅳ에서 관찰되어진 모든 4개의 Gm haplotype의 도수는 대조군과 유의성있는 차이가 났다. 특히 haplotype afnb(Gm(n))의 그것이 유의성있게 높았다. 더욱이 G2m(n)은 IgG4와 IgG1의 level뿐만 아니라 IgG2 level의 증가와 밀접한 관련이 있었다. Gm phenotype을 검사 할 때 IgG1+2와 IgG1+2+4모두에서 antibody level이 증가한 모든 환자가 일관되게 Gm phenotype agfnb나 axfnb를 가졌다. 결론적으로, IgG subclass response는 개인의 immunogenetic marker에 의해 조절되었고 genetic predisposition의 가능성은 EOP subform IV환자에서 관찰할 수 있었다. 더욱이 G2m(n)과 Gm phenotype agfnb나 axfnb 모두 IgG1+2 나 IgG1+2+4 antibody의 증가와 밀접한 관련이 있었다.

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A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

  • Lee, Ok-Jeong;Kim, Su-Jin;Sohn, Young-Bae;Park, Hyung-Doo;Lee, Soo-Youn;Kim, Chi-Hwa;Ko, Ah-Ra;Yook, Yeon-Joo;Lee, Su-Jin;Park, Sung-Won;Kim, Se-Hwa;Cho, Sung-Yoon;Kwon, Eun-Kyung;Han, Sun-Ju;Jin, Dong-Kyu
    • Clinical and Experimental Pediatrics
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    • v.55 no.3
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    • pp.88-92
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    • 2012
  • Purpose: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. Methods: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl- ${\alpha}$-iduronate 2-sulphate. Results: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type ($p$=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 $nmol{\cdot}4hr^{-1}{\cdot}mL^{-1}$. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; $p$=0.003). Conclusion: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.

Development of SNP Molecular Markers Related to Seed-hair Characteristic Based on EST Sequences in Carrot (당근 EST 염기서열을 이용한 종자모 형질 관련 SNP 분자표지 개발)

  • Oh, Gyu-Dong;Shim, Eun-Jo;Jun, Sang-Jin;Park, Young-Doo
    • Horticultural Science & Technology
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    • v.31 no.1
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    • pp.80-88
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    • 2013
  • Carrot (Daucus carota L. var. sativa) is one of the most extensively used vegetable crops in the world and a significant source of nutrient because of its high content of ${\beta}$-carotene, well known as the precursor of vitamin A carotenoid. However, seed-hairs generated and elongated from the epidermal cell of seeds inhibit absorption and germination by various factors such as carotol and so on. Accordingly, mechanical hair removal process is essential before commercialization of carrot seeds. Because of this process, producers will have additional losses such as time consuming, manpower, capital and so on. Furthermore, physical damage of seeds causes irregular germination rate. To overcome such cumbersome weaknesses, new breeding program for developing hairless-seed carrot cultivar has been needed and studies for molecular markers related to seed-hair characteristic is needed for a new breeding program. Therefore, in this study, cDNA libraries from seeds of short-hair seed phenotype CT-SMR 616 OP 659-1 line, hairy-seed phenotype CT-SMR 616 OP 677-14 line and short-hair seed phenotype CT-ATR 615 OP 666-13 line, hairy-seed phenotype CT-ATR 615 OP 671-9 were constructed, respectively. Furthermore, 1,248 ESTs in each line, total 4,992 ESTs were sequenced. As a result, 19 SNP sites and 14 SNP sites in each of 2 combinations were confirmed by analyzing these EST sequences from short-hair and hairy-seed lines. Then we designed SNP primer sets from EST sequences of SNP sites for high resolution melting (HRM) analysis. Designed HRM primers were analyzed using hairy seed phenotype CT-SMR 616 OP 1040 line and short-hair seed phenotype CT-SMR 616 OP 1024, 1025, 1026 lines. One set of HRM primers showed specific difference between the melting curves of hairy and short-hair seed phenotype lines. Based on this result, allele-specific (AS) PCR primers were designed for easier selection between hairy-seed carrot and hairless seed carrot. These results of HRM and AS-PCR are expected to be useful in breeding of hairless seed carrot cultivar as a molecular marker.

Phellinus linteus Extract Regulates Macrophage Polarization in Human THP-1 Cells (상황버섯 추출물의 인간 유래 THP-1 단핵구 세포주의 분극화 조절)

  • Lee, Sang-Yull;Park, Sul-Gi;Yu, Sun-Nyoung;Kim, Ji-Won;Hwang, You-Lim;Kim, Dong-Seob;Ahn, Soon-Cheol
    • Journal of Life Science
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    • v.30 no.2
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    • pp.113-121
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    • 2020
  • Macrophages are initiators for regulating a host's defenses to eliminate pathogens and trigger tissue repair. Macrophages are classified into two types: classically (M1) activated macrophages and alternatively (M2) activated macrophages. M1-phenotype macrophages directly or indirectly kill infectious organisms and tumor cells via pro-inflammatory responses, whereas M2-phenotype macrophages remodel wounded tissue through anti-inflammatory responses. In this paper, we investigated how Phellinus linteus hot water extract passed from Diaion HP-20 resin (PLEP) regulates polarization of M1-like or M2-like macrophages in human THP-1 cells. PLEP did not have cytotoxicity at a high concentration of 300 ㎍/ml. We observed morphological alteration of the THP-1 cells, which are stimulated by PLEP, LPS/INF-γ (M1 stimulators) or IL-4/IL13 (M2 stimulators). PLEP exposure induced morphology contiguous with LPS/INF-γ. qPCR was also performed to determine whether PLEP influences M1 or M2 polarization-related genes. M1-phenotype macrophage-specific genes, such as TNF-α, IL-1β, IL-6, IL-8, CXCL10 and CCR7, were enhanced by PLEP in a dose-dependent manner similar to LPS/INF-γ. Conversely, M2-phenotype-specific genes, such as MRC-1, DC-SIGN, CCL17 and CCL22, were suppressed by PLEP. PLEP also significantly up-regulated secretory inflammation cytokines related to M1 polarization of macrophages, including TNFα, IL-1β and IL-6, which was similar to the gene expression. Further, MAPK and NF-κB signaling were increased by treatment with PLEP, resulting in enhancement of cytokine secretion. PLEP might therefore be used as a promising booster of pro-inflammatory responses through M1 polarization of human THP-1 cells.