[Genomic imprinting and hereditary diseases].
Clinical experience and molecular genetics have demonstrated several exceptions to Mendelian inheritance in man. Genomic imprinting is a mechanism that regulates expression or repression of genes according to their parental origin. The phenotypic expression of imprinted genes is therefore dependent on whether the gene was inherited from the father or the mother. More than 20 imprinted genes in man are recognized, and these genes tend to occur in clusters in the genome. The best characterized imprinted regions are the 15q11-13 region which involves Prader-Willi's syndrome and Angelman's syndrome and the 11p15 region involving Beckwith-Wiedemann's syndrome. The mechanism for disease expression in these two regions is discussed.
Orstavik
K H
KH
Avdeling for medisinsk genetikk, Ullevål sykehus, Oslo.
D017204:Angelman Syndrome / Q000235:genetics*; D000818:Animals; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005786:Gene Expression Regulation; D018392:Genomic Imprinting; D006801:Humans; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*