NDLI: Genomic Studies of Hereditary Disorders and the Genetic Diversity of Siberian Populations

Content Provider	Springer Nature Link
Author	Puzyrev, V. P. Stepav, V. A. Nazarenko, S. A.
Copyright Year	2004
Abstract	The review considers the results of genome research on the Russian program Human Genome carried out in the Institute of Medical Genetics (Tomsk) since 1990. The three major fields were molecular cytogenetics and chromosomal disorders, genomics of Mendelian and common diseases, and ethnogenomics of the North Asian population. Several human genes were cytogenetically mapped, and numerical and structural abnormalities associated with human diseases were studied by fluorescence hybridization. Procedures of DNA diagnosis were developed for 15 hereditary diseases. New data were obtained on the 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.
Starting Page	110
Ending Page	118
Page Count	9
File Format	PDF
ISSN	00268933
Journal	Molecular Biology
Volume Number	38
Issue Number	1
e-ISSN	16083245
Language	English
Publisher	Kluwer Academic Publishers-Plenum Publishers
Publisher Date	2004-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Life Sciences Biochemistry
Content Type	Text
Resource Type	Article
Subject	Structural Biology Biophysics

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