Austin K D, Hall J G
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Pediatr Clin North Am. 1992 Apr;39(2):335-48. doi: 10.1016/s0031-3955(16)38298-0.
It has become clear in recent years that not all forms of inheritance follow classical mendelian laws regarding the equal contribution from both parents. These nontraditional modes of inheritance and gene expression include cytoplasmic inheritance, mosaicism, uniparental disomy, and genomic imprinting. All of these have been implicated in human genetic disorders and cancers and thus need to be kept in mind when trying to understand unusual observations in the clinic as well as when providing genetic counseling.
近年来已经明确,并非所有的遗传形式都遵循关于父母双方平等贡献的经典孟德尔定律。这些非传统的遗传和基因表达模式包括细胞质遗传、镶嵌现象、单亲二体性和基因组印记。所有这些都与人类遗传疾病和癌症有关,因此在试图理解临床中不寻常的观察结果以及提供遗传咨询时都需要牢记。