[Prevalence of hereditary pathology in Altai Republic]. / Rasprostranennost' nasledsvennoi patologii u naseleniia respubliki Altai.

Medical genetic study of the population of Altai Republic (Russia) has been performed. The population sample comprises 203 148 subjects, including 59 196 Altaians, 134 972 Russians, and 8980 Kazakhs. For each nosological group, the loads of Mendelian pathology with different modes of inheritance and their prevalence rates in urban and rural populations have been determined. Thirty-six autosomal dominant (AD) diseases have been found in a total of 121 subjects, with hereditary syndromes being the most prevalent. Autosomal recessive (AR) pathology is represented by 24 diseases found in 158 subjects, with metabolic disorders being the most prevalent; and X-linked pathology, by four diseases in nine subjects. The prevalence rate has been calculated for each nosological form in the district where it has been found. The loads of AD, AR, and X-linked pathologies in the urban population were, respectively, 2.98 and 9.62 per 1000 people and 0.56 per 1000 men in Altaians; 0.86 and 0.94 per 1000 people and 0.23 per 1000 men in Russians; 0.34 and 1.16 per 1000 people in Kazakhs. In the rural population, the genetic load has been calculated for each district. The spectrum of hereditary pathology in the populations studied is described.

[Epidemiology of congenital malformations in Gorno-Altaisk, Altai Republic, Russia]. / Epidemiologii vrozhdennykh porokov razvitiia v g. Gorno-Altaisk (Respublica Altai).

A retrospective epidemiological study has been performed using the data from healthcare institutions of the city of Gorno-Altaisk, Altai Republic, Russia for the period from 1983 to 2001. Congenital malformations (CMFs) have been studied in newborns, infants that died at ages under one year, and fetuses after 22 weeks of gestation. The most frequent malformations are those of the musculoskeletal and cardiovascular systems and multiple malformations, which account for 37.68, 18.22, and 8.9% of all congenital malformations, respectively. Their frequencies are 7.38, 3.57, and 1.74 per thousand, respectively. The frequency of congenital malformations subject to registration by the national system of CMF monitoring of the Russian Federation (21 malformation forms) is 6.08 per 1000 births and varies from 8.59 to 21.24. The frequency of the Down syndrome is 0.93 per 1000 births; it did not vary significantly during the period studied. The frequency of limb reduction deformities in the urban population of Altai Republic (0.32 per 1000 births) is higher than in other Siberian regions, including the cities of Kyzyl (Tyva Republic) and Tomsk and the Nyurba and Ust-Aldan uluses of Sakha Republic (Yakutia).