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asadi F, goodarzi H, zahiri J, jafarinia M. Genes Associated with Coma or Recurrent Coma and Role of Next Generation Sequencing in Diagnosis of Disease-Causing Genes. mljgoums 2022; 16 (1) :1-8
URL: http://mlj.goums.ac.ir/article-1-1343-en.html
1- PhD student, Department of Genetics, Fars Science and Research Branch, Islamic Azad University, Marvdasht, Iran And Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
2- Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran , drgoodarzi.lab@gmail.com
3- Department of Bioinformatics, Faculty of Biology Sciences, Tarbiat Modares University, Tehran, Iran
4- Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
Abstract:   (1777 Views)
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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Research Article: Review Article | Subject: Human Genetics
Received: 2020/11/10 | Accepted: 2021/05/1 | Published: 2021/12/29 | ePublished: 2021/12/29

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