Gene Dosage - an overview | ScienceDirect Topics

The extent to which gene dosage induces a particular phenotype is due to a complex array of factors including the expression level of the protein from the remaining allele, the potential for haploinsufficiency in the parent to affect the phenotype of the progeny, and the presence of genetic modifiers. From: Hormones, Brain and Behavior (Second Edition), 2009 Robert L. Nussbaum MD, FACP, FACMG, in Thompson & Thompson Genetics in Medicine, 2016 For chromosome and genomic disorders, it is thequantitative aspects of gene expression that underlie disease, in contrast to single-gene disorders, in which pathogenesis often reflectsqualitative aspects of a gene's function. The clinical consequences of any particular chromosome abnormality will depend on the resulting imbalance of parts of the genome, the specific genes contained in or affected by the abnormality, and the likelihood of its transmission to the next generation. The central concept for thinking about chromosome and genomic disorder

saved by

• Viraj Cz