Wilson G N, Hall J G, de la Cruz F
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063.
Am J Med Genet. 1993 Jul 1;46(6):675-80. doi: 10.1002/ajmg.1320460614.
Compelling evidence for genomic imprinting as a pathogenetic mechanism in humans mandates re-evaluation of every genetic or multifactorial disease for parent-of-origin effects. In an expanding list of malformation syndromes, cancers, growth abnormalities, and chromosomal disorders, phenotypes may be determined by source rather than content of transmitted DNA. A multidisciplinary conference held on April 13-14, 1992, reviewed the substantial impact of genomic imprinting in mouse development and discussed in role in human pregnancy, childhood cancers, chromosomal translocations, X-inactivation, and several disorders associated with mental retardation. Topics for future research include the mechanism, timing, reversibility, and homology of the imprinting process.
基因组印记作为人类致病机制的有力证据，要求对每一种遗传或多因素疾病进行重新评估，以确定亲源效应。在越来越多的畸形综合征、癌症、生长异常和染色体疾病中，表型可能由传递的DNA的来源而非其内容所决定。1992年4月13日至14日举行的一次多学科会议，回顾了基因组印记对小鼠发育的重大影响，并讨论了其在人类妊娠、儿童癌症、染色体易位、X染色体失活以及几种与智力迟钝相关的疾病中的作用。未来研究的主题包括印记过程的机制、时间、可逆性和同源性。
