title: [Genomic structure and DNA diagnosis of hereditary monogenic diseases in the Volga-Ural region].
abstract: The review considers the main results of molecular analysis of the genes responsible for cystic fibrosis, phenylketonuria, Wilson-Konovalov disease, Duchenne-Becker progressive muscular dystrophy, myotonic dystrophy, Huntington's disease, and nonsyndromic hereditary hypoacusis in populations of the Volga-Ural region. The results were obtained in the past ten years within the framework of the Russian program Human Genome. The mutation spectra and frequencies of these genes were characterized in the major ethnic groups (Bashkirs, Tatars, Russians) of Bashkortostan. Several diseases were associated with particular alleles or haplotypes of polymorphic loci of relevant genes. The results were used to develop DNA diagnostic procedures optimal for the region and to establish the origin of the mutations involved.
authors.affiliation: Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054 Russia. 021gen@mail.ru
authors.forename: I M
authors.initials: IM
authors.lastname: Khidiiatova
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D004247:DNA / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D012426:Russia
chemical_list: D004247:DNA