engleski

Genomic imprinting in medical genetics

Almost all human diseases have at least one genetical factor which is important for their etiology and-pathogenesis. Over the past few years much attention has been paid to disorders in which inheritance patterns are confusing and do not seem to follow normal Mendelian patterns or have low penetrance or marked variability of expression related to the sex of the transmitting parent. The new notions in human genetics like a somatic mosaicism, mutation of chromosome 25 (cytoplasmic or mitochondrial chromosome) and genomic imprinting may explain a number of hitherto confusing observations in human diseases. This paper briefly reviews the current evidence concerning genomic imprinting related to human development and diseases. Genomic imprinting is the process by which genes are labelled as being of paternal or maternal origin. The phenomenon of imprinting is manifest at the level of genome, individual chromosome and single gene.

complete hydatidiform moles ; parental origin ; huntingtons-disease ; uniparental disomy ; prader-willi ; myotonic-dystrophy ; x-chromosome ; translocation ; expression ; mechanism

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