Hall J G
Department of Pediatrics, University of British Columbia, BC's Children's Hospital, Vancouver, Canada.
Annu Rev Med. 1997;48:35-44. doi: 10.1146/annurev.med.48.1.35.
Molecular genetic techniques allow investigators to trace chromosomes and genes from parent to child and, in a single individual, from tissue to tissue. These techniques have uncovered a new type of gene control in which the allele from one parent is expressed and the allele from the other parent is not. This differential expression is called genomic imprinting. It may lead to phenotypic differences when inheritance is from the mother versus the father. Genomic imprinting has been observed in a number of disorders having to do with growth, behavior, and abnormal cell growth. It is important to be aware that such a phenomenon exists and to consider it when making diagnoses and determining therapy.
分子遗传学技术使研究人员能够追踪染色体和基因从亲代到子代的传递，并且在单个个体中，能够追踪从一个组织到另一个组织的传递。这些技术揭示了一种新型的基因控制方式，即来自一方亲本的等位基因表达，而来自另一方亲本的等位基因不表达。这种差异表达被称为基因组印记。当遗传来自母亲与父亲时，它可能导致表型差异。基因组印记已在许多与生长、行为和异常细胞生长有关的疾病中被观察到。重要的是要意识到这种现象的存在，并在进行诊断和确定治疗方案时予以考虑。
