Lalande M
Howard Hughes Medical Institute, Genetics Division, Children's Hospital, Boston, Massachusetts, USA.
Annu Rev Genet. 1996;30:173-95. doi: 10.1146/annurev.genet.30.1.173.
Parental imprinting is a process that results in allele-specific differences in transcription, DNA methylation, and DNA replication timing. Imprinting plays an important role in development, and its deregulation can cause certain defined disease states. Absence of a paternal contribution to chromosome 15q11-q13, due to hemizygous deletion or uniparental disomy, results in the Prader-Willi syndrome. The absence of a normal maternal copy of the same region causes Angelman syndrome. The Beckwith-Wiedemann syndrome is associated with the failure of normal biparental inheritance of chromosome 11p15, and loss of imprinting is observed in several cancers including Wilms' tumor. The study of the molecular basis of abnormal imprinting in these disorders will facilitate the identification and characterization of other imprinted human disease loci.
亲本印记是一个导致转录、DNA甲基化和DNA复制时间等位基因特异性差异的过程。印记在发育中起重要作用，其失调可导致某些特定的疾病状态。由于半合子缺失或单亲二体导致父本对染色体15q11-q13的贡献缺失会导致普拉德-威利综合征。同一区域正常母本拷贝的缺失会导致安吉尔曼综合征。贝克威思-维德曼综合征与染色体11p15正常双亲遗传失败有关，并且在包括肾母细胞瘤在内的几种癌症中观察到印记丢失。对这些疾病中异常印记分子基础的研究将有助于鉴定和表征其他印记人类疾病位点。
