Russian Journal

ISSN 0042-8809

Issue:
Volume 43, issue 5

Title:
HUMAN GENETIC IMPRINTING DISEASES

Authors:
V.P.Puzyrev, S.A.Nazarenko

Address:
Institute of Medical Genetik, Tomsle Research Cenfre, Siberian Branch of Russian Academy of Medical Sciences

Abstract:
Genetic imprinting is an epigenetic phenomenon by which the parental germline confers a sex-specific mark on the some chromosomal regions which provide for monoallelic gene expression in the offspring. This paper examine the relation of genetic imprinting with human diseases. Collection of data on uniparental disomy cases in human diseases and early embryonic lethality, identification intragenic deletions and point mutations in patients who have some syndromes due to a parental imprint switch failure is providing our understanding of phenomenon of genetic imprinting and have important clinical implications.

Key words: genetic imprinting, uniparental disomy, human disenses