IMED2004 Study Guide - Final Guide: Somatic Cell, Ornithine, Urea Cycle
Document Summary
Mutation arises from mitotic errors after fertilization and propagates through multiple tissues or organs. When the somatic cells of the body are of more than one genotype. Typically due to mitotic dna replication errors at first or later cleavages. Depending on stage at which mutation occurred. & lineage of somatic cell in which it originated segmented or patchy manifestation. If before separation of germline from somatic cells. Mutation present in both & transmitted to offspring in complete form. Somatic mosaicism documented in many x-linked disorders in both males & females. A case of dysfunction of hepatic urea cycle. Due to deficiency of ornithine transcarbamylase in a boy with unusually mild form. Had somatic mosaicism for a deletion in otc gene. Where don"t express mosaicism in germline so children will not inherit it. Where egg and sperm can produce the skewing. Deletion of 1 allele, this individual will make a bit of functional enzyme. Mosaicism will give a less impacted genotype.
