• Title/Summary/Keyword: Molecular heterogeneity

Search Result 146, Processing Time 0.021 seconds

Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature

  • Alharthi, Abdulla A.;El-Hallous, Ehab I.;Talaat, Iman M.;Alghamdi, Hamed A.;Almalki, Matar I.;Gaber, Ahmed
    • Clinical and Experimental Pediatrics
    • /
    • v.60 no.10
    • /
    • pp.327-332
    • /
    • 2017
  • Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. Methods: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Results: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. Conclusion: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

Time Dependence of the Rheological Properties of the Solutions of Polyacrylontrile and Acrylonitrile-Itaconic Acid Copolymer in Dimethyl sulfoxide (아크릴 중합체 및 아크릴-이타코닉산 공중합체/ 디메틸술폭시드 용액의 유변학적 특성의 시간의존성)

  • 이남순
    • Textile Coloration and Finishing
    • /
    • v.13 no.6
    • /
    • pp.435-440
    • /
    • 2001
  • This study investigates the rheological properties of in-situ polymerized solutions of polyacrylonitrile(PAN) and acrylonitrile(AN) -itaconic acid(IA) in dimethyl sulfoxide(DMSO) in terms of temperature, concentration, and time. The complex viscosity and storage modulus of the solutions were generally increased with elapsing time, which is ascribable to the three-dimensional pseudostructures formed by strong inter- or Intra-molecular attractions through Polar -CN and -COOH groups. The three-dimensional pseudonetworks would lead to relation of the acrylic solutions in long term. This was more noticeable at higher temperature within the temperature range examined. In the case of 20% solutions one can not observe lower Newtonian flow region in the viscosity curve. Disappearance of lower Newtonian flow region is indicative of heterogeneity of the solution system. Casson Plot of the viscosity data revealed that 20% solutions of PAN and AN-IA copolymer in DMSO clearly demonstrated positive yield stress, ascertaining formation of pseudostructures in the solution systems.

  • PDF

Time Dependence of the Rheological Properties of the Solutions of Polyacrylontrile and Acrylonitrile-Itaconic Acid Copolymer in Dimethyl sulfoxide (아크릴 중합체 및 아크릴-이타코닉산 공중합체/디메틸술폭시드 용액의 유변학적 특성의 시간의존성)

  • Lee, Nam Sun
    • Textile Coloration and Finishing
    • /
    • v.13 no.6
    • /
    • pp.77-77
    • /
    • 2001
  • This study investigates the rheological properties of in-situ polymerized solutions of polyacrylonitrile(PAN) and acrylonitrile(AN)-itaconic acid(IA) in dimethyl sulfoxide(DMSO) in terms of temperature, concentration, and time. The complex viscosity and storage modulus of the solutions were generally increased with elapsing time, which is ascribable to the three-dimensional pseudostructures formed by strong inter- or intra-molecular attractions through Polar -CN and -COOH groups. The three-dimensional pseudonetworks would lead to gelation of the acrylic solutions in long term. This was more noticeable at higher temperature within the temperature range examined. In the case of 20% solutions one can not observe lower Newtonian flow region in the viscosity curve. Disappearance of lower Newtonian flow region is indicative of heterogeneity of the solution system. Casson Plot of the viscosity data revealed that 20% solutions of PAN and AN-IA copolymer in DMSO clearly demonstrated positive yield stress, ascertaining formation of pseudostructures in the solution systems.

Origin of Chlorophyll ${\alpha}$ Biosynthetic Heterogeneity in Higher Plants

  • Kim, Jin-Seog;Rebeiz, Constantin A.
    • BMB Reports
    • /
    • v.29 no.4
    • /
    • pp.327-334
    • /
    • 1996
  • In this study, the origin of the monovinyl chlorophyll a carboxylic biosynthetic route was investigated in barley (Hordeum vulgare L.) and com (Zea mays L.). Protoporphyrin IX accumulated in vivo or in vitro was found to be all of the divinyl form. Furthermore, the conversion of divinyl protoporphyrin IX to monovinyl protoporphyrin IX in vitro was not observed. In contrast, the biosynthesis and accumulation of monovinyl Mg-protoporphyrin IX and its methyl ester occurred in etiolated leaves and divinyl Mg-protoporphyrin IX was convertible to monovinyl Mg-protoporphyrin IX in vitro. These results suggest that the monovinyl chlorophyll ${\alpha}$ carboxylic biosynthetic route in plants may originate from the divinyl Mg-protoporphyrin IX pool.

  • PDF

A non-replicating oncolytic vector as a novel therapeutic tool against cancer

  • Kaneda, Yasufumi
    • BMB Reports
    • /
    • v.43 no.12
    • /
    • pp.773-780
    • /
    • 2010
  • Cancers are still difficult targets despite recent advances in cancer therapy. Due to the heterogeneity of cancer, a single-treatment modality is insufficient for the complete elimination of cancer cells. Therapeutic strategies from various aspects are needed. Gene therapy has been expected to bring a breakthrough to cancer therapy, but it has not yet been successful. Gene therapy also should be combined with other treatments to enhance multiple therapeutic pathways. In this view, gene delivery vector itself should be equipped with intrinsic anti-cancer activities. HVJ (hemagglutinating virus of Japan; Sendai virus) envelope vector (HVJ-E) was developed to deliver therapeutic molecules. HVJ-E itself possessed anti-tumor activities such as the generation of anti-tumor immunities and the induction of cancer-selective apoptosis. In addition to the intrinsic anti-tumor activities, therapeutic molecules incorporated into HVJ-E enabled to achieve multi-modal therapeutic strategies in cancer treatment. Tumor-targeting HVJ-E was also developed. Thus, HVJ-E will be a novel promising tool for cancer treatment.

Characterization of Ty3-gypsy-like Elements in Hibiscus syriacus

  • Jeung, Ji-Ung;Cho, Sung Ki;Lee, Seung Jae;Shin, Jeong Sheop
    • Molecules and Cells
    • /
    • v.19 no.3
    • /
    • pp.318-327
    • /
    • 2005
  • Southern blot analysis revealed a ubiquitous distribution and high copy number of Ty3-gypsy-like elements in the genome of Hibiscus syriacus. Comparative phylogenetic analysis of the large subunit of Rubisco and the integrase region of Ty3-gypsy elements in various plant species indicated that the retrotransposon-like sequences have different evolutionary histories and their own unique polymorphism in the H. syriacus population. Sequence-tagged site-restriction fragment length polymorphisms (STS-RFLP) analysis also indicated great variability in the numbers and sequences of Ty3-gypsy-like elements within H. syriacus varieties. Ty3-gypsy-like elements may still be active within H. syriacus, since Northern analysis of wounded leaves of H. syriacus variety Saehan with a probe for the integrase domain gave strong hybridization signals. The sequence heterogeneity and ubiquity of the Ty3-gypsy-like elements in H. syriacus genomes could provide reliable DNA markers for line identification as well for the analysis of genetic diversity in H. syriacus.

Genetic variation of BIV isolates characterized by PCR using degenerate primers

  • Kwon, Oh-Sik;Sninsky, John J.
    • Journal of Microbiology
    • /
    • v.33 no.3
    • /
    • pp.252-259
    • /
    • 1995
  • The PCR was employed to detect and characterize the bovine immunodeficiency-like virus (BIV), which is a newly recognized member of the I entivirinae of the retroviruses. Degenerate primers representing the conserved regions in the pol genes of the Lentivirinae, were used to detect proviral DNA obtained from the bovine embryonic spleen cell cultures infected with BIV. The PCR amplified DNA fragment was molecularly cloned and sequenced. The BIV DNA fragment contained a sequence identical to that reported by Garvey et al. (Garvey et al., 1990. Virology, 175, 391-409). With the degenerate primers, peripheral blood mononuclear cells (PBMCs) of sick cattle and cells cultured with BIV were tested to determine genetic variation of BIV pol conserved sequence. We found the sequence heterogeneity within cultures and most variations occurred at the third base of codons that would not lead to amino acid substitutions. Another change was GAG (Glu) to AAG (Lys) within the BIV isolates. Interestingly, the altered sequence is also found in other lentiviruses such as HIV-2, SIV mac, CAEV and EIAV.

  • PDF

Multiplexed single-molecule flow-stretching bead assay for DNA enzymology

  • Lee, Ryanggeun;Yang, Keunsang;Lee, Jong-Bong
    • BMB Reports
    • /
    • v.52 no.10
    • /
    • pp.589-594
    • /
    • 2019
  • Single-molecule techniques have been used successfully to visualize real-time enzymatic activities, revealing transient complex properties and heterogeneity of various biological events. Especially, conventional force spectroscopy including optical tweezers and magnetic tweezers has been widely used to monitor change in DNA length by enzymes with high spatiotemporal resolutions of ~nanometers and ~milliseconds. However, DNA metabolism results from coordination of a number of components during the processes, requiring efficient monitoring of a complex of proteins catalyzing DNA substrates. In this min-review, we will introduce a simple and multiplexed single-molecule assay to detect DNA substrates catalyzed by enzymes with high-throughput data collection. We conclude with a perspective of possible directions that enhance capability of the assay to reveal complex biological events with higher resolution.

The New Way to Define Key Oncogenic Drivers of Small Cell Lung Cancer

  • Kee-Beom Kim
    • Development and Reproduction
    • /
    • v.27 no.1
    • /
    • pp.1-7
    • /
    • 2023
  • Small-cell lung cancer (SCLC) continues to be the deadliest of all lung cancer types. Its high mortality is largely attributed to the unchangeable development of resistance to standard chemo/radiotherapies, which have remained invariable for the past 30 years, underlining the need for new therapeutic approaches. Recent studies of SCLC genome revealed a large number of somatic alterations and identified remarkable heterogeneity of the frequent mutations except for the loss of both RB and P53 tumor suppressor genes (TSGs). Identifying the somatic alterations scattered throughout the SCLC genome will help to define the underlying mechanism of the disease and pave the way for the discovery of therapeutic vulnerabilities associated with genomic alterations. The new technique made it possible to determine the underlying mechanism for the discovery of therapeutic targets. To these ends, the techniques have been focused on understanding the molecular determinants of SCLC.

Novel pan-lineage VP1 specific degenerate primers for precise genetic characterization of serotype O foot and mouth disease virus circulating in India

  • Sagar Ashok Khulape;Jitendra Kumar Biswal;Chandrakanta Jana;Saravanan Subramaniam;Rabindra Prasad Singh
    • Journal of Veterinary Science
    • /
    • v.24 no.3
    • /
    • pp.40.1-40.6
    • /
    • 2023
  • Analysis of the VP1 gene sequence of the foot and mouth disease virus (FMDV) is critical to understanding viral evolution and disease epidemiology. A standard set of primers have been used for the detection and sequence analysis of the VP1 gene of FMDV directly from suspected clinical samples with limited success. The study validated VP1-specific degenerate primer-based reverse transcription polymerase chain reaction (RT-PCR) for the qualitative detection and sequencing of serotype O FMDV lineages circulating in India. The novel degenerate primer-based RT-PCR amplifying the VP1 gene can circumvent the genetic heterogeneity observed in viruses after cell culture adaptation and facilitate precise viral gene sequence analysis from clinical samples.