Genomisches "imprinting" bei kinderärztlich relevanten fragestellungen

Genomic imprinting is an epigenetic process by which the male and the female germline of viviparous taxa confer a sex-specific mark (imprint) on certain chromosomal regions. As a consequence, the paternal and the maternal genome are functionally non-equivalent and both are required for normal embryonic development. Although the nature of the primary imprint remains unknown, differentially methylation of cytosine residues of the DNA seems to play an important role in this process. Uniparental disomy, deletions and imprinting defects lead to a complete loss of function of imprinted genes and therefore to characeristic diseases, such as Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, Silver-Russell syndrome and transient neonatal diabetes mellitus.