title: [Genomic study of the hereditary pathology and genetic diversity of the Siberian population].
abstract: The review considers the results of genome research on the Russian program Human Genome carried out in the Institute of Medical Genetics (Tomsk) from 1990. The three major fields were molecular cytogenetics and chromosomal disorders, genomics of Mendelian and high-incidence diseases, and ethnogenomics of the North Asian population. Several human genes were cytogenetically mapped, and numerical and structural abnormalities associated with human diseases studied by fluorescence hybridization. Procedures of DNA diagnostics were developed for 15 hereditary diseases. New data were obtained on genetic heterogeneity of idiopathic hypertrophic cardiomyopathy. The genetic bases of multifactorial (atopic bronchial asthma) and infectious (tuberculosis) diseases were analyzed. The North Eurasian population (41 local populations of 21 ethnic groups) was tested for genetic diversity with numerous genetic markers, including Y-chromosomal haplotypes, autosomal microsatellites, and polymorphic Alu insertions.
authors.affiliation: Institute of Medical Genetics, Siberian Division, Russian Academy of Medical Sciences, Tomsk, 634050 Russia. valery@img.tsu.ru
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
authors.forename: V A
authors.initials: VA
authors.lastname: Stepanov
authors.forename: S A
authors.initials: SA
authors.lastname: Nazarenko
mesh_terms: D005006:Ethnicity / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D023281:Genomics; D006801:Humans; D012800:Siberia