[Genetic epidemiological study of Bashkortostan Republic: the diversity of monogenic hereditary diseases in five districts].

The diversity of monogenic hereditary diseases (HDs) (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been studied in five districts of Bashkortostan Republic: Burzyanskii, Abzelilovskii, Baimak, Salavatskii, and Arkhangel'skoe raions. The spectrum of HDs comprised 144 diseases, including 83, 48, and 13 Ad, AR, and X-linked diseases. Most of them were found earlier during studies in ten other regions of Russia (Kirov, Kostroma, Tver', Bryansk, and Rostov oblasts, and Krasnodar krai, and the republics of Adygea, Marii El, Udmurtia, and Chuvashia).

[Genetic epidemiological study of Bashkortostan Republic: the effect of genetic structure of population on the load of monogenic hereditary diseases].

Here we present the data obtained during medical genetic examination of the population of five districts of Bashkortostan Republic (Burzyanskii, Baimakskii, Abzelilovskii, Salavatskii, and Arkhangelskii) populated with 168050 persons including 135748 Bashkirs. The study involved all the population of the districts including each ethnic group and was conducted according to standard protocol developed in the Laboratory of Genetic Epidemiology, Medical Genetic Research Center, Russian Academy of Medical Sciences. Based on segregation analysis, the values of prevalence rates of the major types of Mendelian pathology (AD, AR, and X- linked diseases) was calculated in five regions of the Republic as well as for Bashkirs alone.

[Marriage migration parameters in six rural districts of Bashkortostan Republic].

The marriage migration structure of the populations of six districts of Bashkortostan Republic has been studied. The rates of assortative marriages in Bashkirs, Tatars, and Russians are 1.02-2.

[Molecular genetic analysis of phenylketonuria in Bashkiria].

Data on RFLP analysis of the phenylalanine hydroxilase (PAH) locus in phenylketonuria (PKU) patients, their parents, and healthy donors from four ethnic groups of Bashkortostan are presented. Forty-one probands were examined; seven and 7 R408W homozygotes and 16 compound heterozygotes carrying one parental chromosome with the R408W mutation and the other chromosome with an unidentified mutation were detected. The R408W mutation was found to account for only 38% of PKU chromosomes in Bashkortostan.