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

被引：0
作者：
V. P. Puzyrev
V. A. Stepanov
S. A. Nazarenko
机构：
[1] Russian Academy of Medical Sciences,Institute of Medical Genetics, Siberian Division
来源：
Molecular Biology | 2004年 / 38卷
关键词：
genomics; chromosomal and monogenic disorders; multifactorial disorders; genetic diversity;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：110 / 118
页数：8
相关论文
共 125 条
[1]  
McKusick V.A.(1997)Genomics: structural and functional studies of genomes Genomics 45 244-249
[2]  
Nazarenko S.A.(1991)Regional assignment of the human cell cycle control gene CDC2 to chromosome 10q21 by in situ hybridization Hum. Genet. 87 621-622
[3]  
Ostroverhova N.V.(1999)High frequency of tissue specific mosaicism in Turner syndrome patients Clin. Genet. 56 59-65
[4]  
Spurr N.K.(1997)Interphase analysis of aneuploidy X in various tissues of healthy subjects by fluorescence in situ hybridization Genetika 33 1426-1430
[5]  
Nazarenko S.(1999)Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation Am. J. Med. Genet. 85 179-182
[6]  
Timoshevsky V.(2003)Spontaneous aneuploidy frequency in human somatic and germ cells: whether it is identical? Ann. Genet. 46 277-278
[7]  
Sukhanova N.(2003)Molecular cytogenetic characterization of chromosome disbalance in human spontaneous abortion cells with a low Genetika 39 1030-1037
[8]  
Nazarenko S.A.(2002) proliferation rate Genetika 38 149-160
[9]  
Timoshevsky V.A.(2002)Comparative genome hybridization as a method to assess genomic disbalance Genetika 38 1435-1442
[10]  
Ostroverkhova N.V.(1996)Detection of aneuploidy in spontaneous abortions by comparative genome hybridization Genetika 32 1392-1395
12345678910