Albinism and Achondroplasia

This lecture covers the genetic basis of albinism, a condition characterized by a lack of pigment in skin, hair, and eyes, and achondroplasia, a disease affecting cell-to-cell communication. It discusses the inheritance patterns, symptoms, and incidence of various autosomal disorders in humans, including albinism and achondroplasia. The lecture also explores how mutations can lead to loss-of-function or gain-of-function phenotypes, using examples such as FGFR3 mutations. Additionally, it delves into the transmission of achondroplasia, an autosomal dominant disorder, and the impact of mutations on body weight and limb development, as seen in achondroplasia and spider lamb syndrome.