What is the role of imprinting in human genetic disorders?

Key Concepts

Genomic Imprinting

Genomic imprinting is an epigenetic phenomenon where certain genes are expressed in a parent-of-origin-specific manner. This means that for some genes, only the allele inherited from one parent is active, while the other is silenced. This selective expression can lead to various developmental and physiological outcomes, and its disruption is linked to several genetic disorders.

Human Genetic Disorders

Human genetic disorders are diseases caused by abnormalities in an individual's DNA, which can result from mutations, chromosomal abnormalities, or epigenetic changes. These disorders can be inherited or arise de novo and can affect various systems in the body. Understanding the genetic basis of these disorders is crucial for diagnosis, treatment, and genetic counseling.

Imprinting Disorders

Imprinting disorders are a subset of genetic disorders that arise from the improper expression of imprinted genes. Examples include Prader-Willi syndrome and Angelman syndrome, which are caused by the loss of function of genes on chromosome 15, depending on whether the mutation occurs in the paternal or maternal allele. These disorders highlight the importance of genomic imprinting in normal development and its implications in disease.