[Deletion analysis of the dystrophin gene in patients with Duchenne's muscular dystrophy in Tajikistan]. / Analiz deletsii gena distrofina u bol'nykh s miodistrofiei Diushenna v Tadzhikistane.

The deletion spectrum of the dystrophin gene was studied in 25 patients with Duchenne's muscular dystrophy (DMD) from 23 families in Tajikistan. To detect deletions, 17 various regions of the dystrophin gene were amplified by means of polymerase chain reaction (PCR). Deletions were revealed in 13 patients from 12 families (52%). The deletion frequency differed in different gene exons, but deletions in the distal part of the gene prevailed (in 91% of cases). Deletions from exons 47 and 48 were detected in 22% of patients; deletions from exon 50 were detected in 35% of patients (73% of patients with deletions). This showed the significance of analyzing the distal part of the gene for DMD diagnostics in Tajikistan. Studying the location of deletion breakpoints revealed a "hot spot" within the dystrophin gene: right (distal) deletion breakpoints occurred between exons 50 and 52 in 73% of deletions.

[Population-genetic characteristic of the rural population of southern Tajikistan]. / Populiatsionno-geneticheskaia kharakteristika sel'skoi populiatsii ioga Tadzhikistana.

The results of genetic and demographic study of the inhabitants in south Tadjikistan are presented. It had been shown that the population studied is a typical rural population of Middle Asia and is characterized by the extended reproductive capacity, homogeneity of national composition and a high proportion of consanguineous marriages. Genetic variation in blood groups (AB0, MN, Rh-D, P1), serum proteins and red cell enzyme systems (Tf, Gc, Hp, PGM1, PGD, EsD, AcP1) was examined. A comparative analysis of gene frequencies in the population studied and some other Middle Asia populations has been carried out.