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Umurzakova, A, Ayaganov, D, Mannapova, A, Dzhumasheva, B, Dzhaksybayeva, A. (1402). Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan. سامانه مدیریت نشریات علمی, 78(3), 949-954. doi: 10.22092/ari.2022.360050.2534
A Umurzakova; D Ayaganov; A Mannapova; B Dzhumasheva; A Dzhaksybayeva. "Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan". سامانه مدیریت نشریات علمی, 78, 3, 1402, 949-954. doi: 10.22092/ari.2022.360050.2534
Umurzakova, A, Ayaganov, D, Mannapova, A, Dzhumasheva, B, Dzhaksybayeva, A. (1402). 'Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan', سامانه مدیریت نشریات علمی, 78(3), pp. 949-954. doi: 10.22092/ari.2022.360050.2534
Umurzakova, A, Ayaganov, D, Mannapova, A, Dzhumasheva, B, Dzhaksybayeva, A. Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan. سامانه مدیریت نشریات علمی, 1402; 78(3): 949-954. doi: 10.22092/ari.2022.360050.2534

Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan

Archives of Razi Institute
مقاله 21، دوره 78، شماره 3، مرداد و شهریور 2023، صفحه 949-954    اصل مقاله (484.46 K)
نوع مقاله: Original Articles
شناسه دیجیتال (DOI): 10.22092/ari.2022.360050.2534
نویسندگان
A Umurzakova* 1؛ D Ayaganov1؛ A Mannapova1؛ B Dzhumasheva2؛ A Dzhaksybayeva3
1West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan
2Regional Children's Clinical Hospital, Aktobe, Kazakhstan
3Astana Medical University, Nur-Sultan, Kazakhstan
چکیده
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular illness with a progressive course caused by mutations in the gene encoding the protein dystrophin (DMD; locus Xp21. 2). This study aimed to investigate the clinical aspects of DMD progression according to the mutation type. Included in the study were 38 boys aged 3 to 11 years. Laboratory (biochemical evaluation of the level of creatinine phosphokinase, multiplex ligation-dependent probe amplification [MLPA], and next-generation sequencing [NGS] analysis of the DMD gene), genealogical, and clinical approaches were utilized (including adapted Hammersmith Functional Motor Scale, the study of auditory-speech memory by the "Memorizing 10 words" method, and a general neurological assessment). The MLPA revealed deletion in 22 cases (57.8%), duplication in 6 (15.7%), and negative results in 11 (26.5%). To discover point mutations, 11 infants with negative MLPA results were sequenced. According to the results of the NGS, point mutations were identified in six boys (four single-nucleotide deletions and two single-nucleotide duplications), and five boys lacked mutations. Due to the high proportion of neuro-hereditary diseases in the general structure of neurological pathology, the profound disability of patients with progressive mental and physical disadaptation, as well as the generally fatal course of these incurable afflictions, molecular genetics research is of particular importance.
کلیدواژه‌ها
Duchenne myodystrophy؛ Genetic research؛ Mutations؛ Neuromuscular disorders؛ Sequencing
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مراجع
  1. Koncina E, Haan S, Rauh S, Letellier E. Prognostic and predictive molecular biomarkers for colorectal cancer: updates and challenges. Cancers. 2020;12(2):319.
  2. Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, et al. Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet. 2014;59(1):46-50.
  3. Murugan SS, Arthi C, Thilothammal N, Lakshmi B. Carrier detection in Duchenne muscular dystrophy using molecular methods. Indian J Med Res. 2013;137(6):1102.
  4. Omonova U. Clinical-electroneuromyographic characteristics of the patients with duchenne/becker's progressive muscular dystrophy in Uzbekistan. Nat J Neurol. 2015;7(1):43-5.
  5. Achmedova P, Ugarov I, Umachanova Z, Zinchenko R, Ginter E. Prevalence of progressive muscular dystrophy duchenne/becker in republic of dagestan (according to the register neuromuscular disease). Med Genet. 2015;14(1):20-4.
  6. Trabelsi M, Beugnet C, Deburgrave N, Commere V, Orhant L, Leturcq F, et al. When a mid-intronic variation of DMD gene creates an ESE site. Neuromuscul Disord. 2014;24(12):1111-7.
  7. Vlodavets D. New target therapy for progressive Duchenne muscular dystrophy. Russian Bull Perinatol Pediatric. 2015;4:220.
  8. Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, et al. The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36(4):395-402.
  1. D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, et al. Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: critical issues and areas for improvements. Neuromuscul Disord. 2017;27(5):447-51.
  2. Poverennova I, Zakharov A, Chernikova V. The analysis of the clinical and tool parameters characterizing a cardiomyopathyat various forms of the progressing muscular dystrophies. Saratov J Med Sci Res. 2017;13(1):160-4.
  3. Ke Q, Zhao Z-Y, Mendell JR, Baker M, Wiley V, Kwon JM, et al. Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. World J Pediatr. 2019;15(3):219-25.
  4. Guiraud S, Chen H, Burns DT, Davies KE. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Exp Physiol. 2015;100(12):1458-67.
  5. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Gene. 2016;53(3):145-51.
  6. Verhaart IE, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy–a literature review. Orphanet J Rare Dis. 2017;12(1):1-15.
  7. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207.
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