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

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