RESUMEN
Genetic and demographic characteristics for urban and rural population of the Chuvash Republic (Chuvashes and Russians) were calculated based on 1122 questionnaires. The sibship sizes for Chuvashes were 2.05 (urban) and 2.78 (rural). For Russians these indices were 1.75 (urban) and 2.00 (rural), respectively. Crow's index and its components were I(m) = 0.04; I(f) = 0.18; and I(tot) = 0.22 for urban, and I(m) = 0.07; I(f) = 0.27; and I(tot) = 0.36 for rural Chuvashes, respectively; and I(m) = 0.04; I(f) = 0.30; and I(tot) = 0.36 for urban, and I(m) = 0.03; I(f) = 0.29; and I(tot) = 0.33 for rural Russians, respectively.
Asunto(s)
Etnicidad , Reproducción , Población Rural , Población Urbana , Etnicidad/estadística & datos numéricos , Femenino , Humanos , Embarazo , Población Rural/estadística & datos numéricos , Federación de Rusia , Población Urbana/estadística & datos numéricosRESUMEN
A genetic epidemiological study of osteopetrosis was carried out in Chuvashiya. The major signs of this disorder are severe anemia developed in the prenatal or early postnatal life, hepatosplenomegaly, and a progressive loss of sight and hearing. Osteopetrosis showed the autosomal recessive inheritance with a somewhat increased proportion of affected patients in families. The lowest estimate of osteopetrosis frequency in Chuvashiya was 0.00026, one affected patient per 3879 newborns. The osteopetrosis gene occurred at a frequency of 0.016; the proportion of heterozygotes was 3.15%. The gene was shown to be evenly distributed throughout the republic.
Asunto(s)
Genes Recesivos , Osteopetrosis/genética , Heterocigoto , Humanos , Recién Nacido , Epidemiología Molecular , Osteopetrosis/epidemiología , Federación de Rusia/epidemiologíaRESUMEN
Comprehensive population genetic and medical genetic studies were performed in three raions (districts) of Chuvashia. The population of these districts is more than 90% Chuvash. About 70% of the families that completed reproduction had two or three children. The proportion of families with four or more children was 18%. The duration of generation was 27.6 years. The differential fertility and differential mortality indices in the Chuvash population were estimated at 0.33 and 0.076, respectively. The total index of differential selection was 0.403, which is typical of modern urbanized populations. Mean values of local inbreeding calculated from Malecot's model of isolation by distance were 0.00124 and 0.00377 for the urban and rural populations, respectively, of the districts studied. The prevalence rates of autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases were found to be 0.47, 0.52, and 0.35 per 1000, respectively, in the urban population and 1.62, 1.14, and 0.31 per 1000, respectively, in the rural population. Significant correlation between the local inbreeding and prevalence rates of AD and AR diseases was found. A total of 43 AD and 43 AR diseases were identified. Some of them were not found in previous studies on other populations.