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Showing 2 results for Nucleotide Sequencing
Probable Role of Bilophila wadsworthia in Appendicle Infection
Mohammad Tabatabaei, Aslam Dehvari, Bita Geramizadeh, Mohammad Hadi Niakan,
Volume 14, Issue 1 (1-2020)
Abstract
ABSTRACT
           Background and Objective: Bilophlia spp. are gram-negative, pleomorphic rod, obligate anaerobe, oxidase-negative, catalase-positive and non-motile bacteria. B. wadsworthia is type species of genus Bilophila with the additional characteristic of urea hydrolysis. B. wadsworthia can be found in a variety of anaerobe infections, particularly appendicitis and intra-abdominal infection that are considered as important opportunistic pathogens.
           Methods: This study was designed to identify Bilophila spp. in clinical specimens by culture and PCR. We examined 91 DNA samples extracted from infected appendix tissues with specific primers.
           Results: Data showed that Bilophila spp. DNA existence in 53.85% (n=49) provided appendiceal tissue.
           Conclusion: The pathological and molecular examination of infected appendiceal tissues revealed that B. wadsworthia is able to act as the primary cause of significant lesions in the appendicle tissues.
           Key words: Bilophila spp., Appendectomy, Appendicle specimens, PCR, Nucleotide sequencing

Genes Associated with Coma or Recurrent Coma and Role of Next Generation Sequencing in Diagnosis of Disease-Causing Genes
Fatemeh Asadi, Hamedreza Goodarzi, Javad Zahiri, Mojtaba Jafarinia,
Volume 16, Issue 1 (1-2022)
Abstract
Coma is a state of prolonged unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes CPT I, CPTII and ACADM), urea cycle defects (due to mutation in OTC gene), organic acidurias, mitochondrial diseases and familial hemiplegic migraine (due to mutations in CACNA1A, ATP1A2 and SCN1A). The evaluation of familial cases of coma or sporadic coma can be performed using next generation sequencing (NGS), a high-throughput  sequencing technique that can sequence an entire genome in a single reaction. This technique has been widely applied in the genetic diagnosis of diseases. In this review, we describe some genes associated with coma or recurrent coma and discuss the role of NGS in detection of these genes.  
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