Dystrophin Gen Mutations in The Population of Azerbaijan Republic

Authors

  • S.А. Аghayeva Genetic Resources Institute of ANAS, Baku, Azerbaijan
  • А.K. Mammadbayli Azerbaijan Medical University, Baku, Azerbaijan
  • E.М. Rasulov Azerbaijan State Advanced Training Insitute for Doctors named after A.Aliyeva, Department of Pediatrics, Baku, Azerbaijan
  • A.M. Mammadov Genetic Resources Institute of ANAS, Baku, Azerbaijan; Western Caspian University, Baku, Azerbaijan
  • N.A. Badalova Children's Neurological Hospital, Baku, Azerbaijan
  • S.E. Aliyeva Azerbaijan Medical University, Baku, Azerbaijan

DOI:

https://doi.org/10.61788/njn.v1i20.05

Keywords:

dystrophin gene, mutation, Duchenne muscle dystrophy, glucose-6-phosphatedehydrogenease ferment, exon, intron, myopathy, kreatinkinaza

Abstract

For the first time, a molecular genetic analysis of a dystrophin gene with a length of 2.6 million pairs of nucleotides was performed on a resident of the Republic of Azerbaijan. Two different mutations: deletion of 13 exons (from 8th to 20th exons) in one patient and deletion of 45th exon in the second one were identified by molecular genetical analysis for patients with Duchenne muscle dystrophy diagnosis from different ethnic groups, residing in Azerbaijan. Taking into account reproductive age of parents, the prenatal diagnosis of fetus is recommended for the following pregnancies.

References

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Published

30.06.2020

How to Cite

Аghayeva S., Mammadbayli А., Rasulov, E., Mammadov, A., Badalova, N., & Aliyeva, S. (2020). Dystrophin Gen Mutations in The Population of Azerbaijan Republic. National Journal of Neurology, 42–46. https://doi.org/10.61788/njn.v1i20.05

Issue

2020: No.1 (17)

Section

Original Articles

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