Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

  • B. I. Tretiak State Institution «Institute of Hereditary Pathology of the National, Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0001-6425-4497
  • M. Ya. Tyrkus State Institution «Institute of Hereditary Pathology of the National, Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0009-0006-9353-4707
  • Kh. Ya. Bakum State Institution «Institute of Hereditary Pathology of the National, Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0002-0877-6327
  • D. V. Zastavna State Institution «Institute of Hereditary Pathology of the National, Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0002-3858-7180
  • H. R. Akopyan State Institution «Institute of Hereditary Pathology of the National, Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0002-6436-1716
DOI: https://doi.org/10.7124/FEEO.v33.1575
Keywords: Kennedy’s syndrome, AR androgen receptor gene, CAG trinucleotide repeats

Abstract

Aim. To perform a molecular genetic study of CAG-repeat expansion in androgen receptor gene AR in individuals with suspected spinal and bulbar muscular atrophy (Kennedy’s syndrome). Methods. Clinical and genealogical, method of differential diagnosis, DNA isolation and purification, molecular genetic: polymerase chain reaction, electrophoresis in agarose gel. Results. A molecular genetic study of trinucleotide CAG-repeats expansion in androgen receptor gene in 30 people with suspected Kennedy’s syndrome was performed. In 5 probands of the study group, 38 CAG repeats (the upper limit of the norm) were established and in 27 examined patients, the number of CAG repeats did not exceed 37 (the norm). Among the examined group of patients, was found a family in which three men had 49 CAG repeats in the AR gene, which confirmed the presence of Kennedy’s syndrome. Conclusions. Kennedy’s syndrome is a rare X-linked recessive disease that requires the development of specific biomarkers to clarify the pathogenic process and facilitate early diagnosis.

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