DNA-DIAGNOSIS OF FAMILIAL CASE OF KENNEDY S SPINAL AND BULBAR MUSCULAR-ATROPHY

Seven relatives of previously described proband with X-linked Kennedy' s spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of trinucleotide CAG repetitions in 5'-region of androgene receptor gene in both patien ts. Five heterozygous female-carriers were discovered meanwhile. PCR-m ethod permitted to diagnose the disease exactly, to reveal heteroxygou s carrier of pathological gene and to perform potential prenatal diagn osis.