[The DNA diagnosis of a familial case of Kennedy's spinal and bulbar amyotrophy]. / DNK-diagnostika semeinogo sluchaia spinal'noi i bul'barnoi amiotrofii Kennedi.

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 patients. Five heterozygous female carriers were discovered meanwhile. PCR-method permitted to diagnose the disease exactly, to reveal heterozygous carrier of pathological gene and to perform potential prenatal diagnosis.

[Results of screening hematological and cytochemical blood studies of 906 children living in Bryansk Province at places with different intensities of soil contamination with cesium-137 and strontium-90]. / Rezul'taty skriningovykh gematologicheskikh i tsitokhimicheskikh issledovanii krovi 906 detei, prozhivaiushchikh v Brianskoi oblasti v mestakh s raznoi plotnost'iu zagriazneniia pochvy tseziem-137 i strontsiem-90.

Populations of children living in the Bryansk territory (radionuclide contamination 0.2-63.9 Cu/km2) are characterized by heterogeneous blood counts, though relevant mean values are close to control. Mean cytochemical indices indicated a significant reduction in activity of point nonspecific esterase (NSEP), a marker of mature T-cells, in children from all the contaminated districts. Shifts in cytochemical blood lymphocytogram by NSEP test evidencing rejuvenascence of T-lymphocyte pool were recorded in 12-33% of children from different villages. A 10% decrease in NSEP suggested poor adaptation and feasibility of immunodeficiency. In one-third of children with low NSEP the number of lymphocytes with large-granular PAS reaction may reflect uneffective B-lymphopoiesis in these children. In two villages significantly contaminated with 137Cs and 90Sr half of the children had blood hemoglobin above 150 milligrams. Children from three villages exhibited a sharp rise in the number of lymphocytes with intensive-granular PAS reaction. These changes may be related to thyroid abnormalities. The number of children at risk of health deterioration grows with growing environmental contamination with 137Cs.