Tachdjian G, Baumann C
Service de Biologie du Dévelopment-Cytogénètique, Unité de Génétique médicale, Service de Néonatologie (CB), Hôpital Robert Debré, Paris.
Presse Med. 1998 Feb 28;27(8):365-9.
AN EXCEPTION TO THE RULE: For certain genes, alleles are expressed differently depending on whether they originate from the maternal or paternal genome. This is called the parental imprinting. The parental imprinting plays an important role in development and a dysregulation can lead to various disease states. Loss of the parental imprinting or its alteration is implicated in certain genetic diseases and cancers. When the process is altered, two homologous chromosomes may come from the same parent, a situation termed uniparental disomy. GENETIC DISEASE IN MAN: Several genetic diseases in man are known to be related to the parental imprinting. Willi-Prader disease, Angelman disease and Beckwith-Wiedemann disease are the most extensively studied.
Some of the underlying mechanisms are known, but several points concerning the parental imprinting remain to be elucidated, particularly the precise nature of the molecular mechanisms and the identification of the genes controlling this genetic process.
规则的一个例外：对于某些基因，等位基因的表达取决于它们来自母本基因组还是父本基因组。这被称为亲本印记。亲本印记在发育过程中起着重要作用，失调会导致各种疾病状态。亲本印记的缺失或改变与某些遗传疾病和癌症有关。当这个过程发生改变时，两条同源染色体会来自同一亲本，这种情况称为单亲二体性。人类的遗传疾病：已知人类的几种遗传疾病与亲本印记有关。威-普二氏病、天使综合征和贝克威思-维德曼综合征是研究最为广泛的。
一些潜在机制已为人所知，但关于亲本印记仍有几个要点有待阐明，特别是分子机制的确切性质以及控制这一遗传过程的基因的鉴定。
