Voprosy meditsinskoi khimii (ISSN 0042-8809)

Human genetic imprinting diseases

Puzyrev V.P., Nazarenko S.A.
PubMed Id: 9446326
Year: 1997 vol: 43  issue:5  pages: 356-365
Abstract: Genetic imprinting is an epigenetic phenomenon by which the parental germlineconfers a sex-specific mark on the some chromosomal regions which providefor monoallelic gene expression in the offspring. This paper examine therelation of genetic imprinting with human diseases. Collection of dataon uniparental disomy cases in human diseases and early embryonic lethality,identification intragenic deletions and point mutations in patients whohave some syndromes due to a parental imprint switch failure is providingour understanding of phenomenon of genetic imprinting and have importantclinical implications.
Download PDF:
Reference: Puzyrev V.P., Nazarenko S.A., Human genetic imprinting diseases, Voprosy meditsinskoi khimii, 1997, vol: 43(5), 356-365.