HSS 2305 Lecture Notes - Lecture 12: Motor Coordination, Huntingtin, Xyy Syndrome

• School: University of Ottawa
• Department: Health Sciences
• Course: HSS 2305
• Professor: Shannon Bainbridge

Document Summary

Explain the different mechanisms through which alterations in dna can lead to disease. Discuss the different modes of single gene mutation inheritance patterns, providing examples of resulting diseases. Define familial inheritance and explain how diseases result from this mode of genetic inheritance. Explain a kayotype, how one is completed, and reasons for having one done. Discuss the major types of chromosomal abnormalities that can result in disease, providing examples for each type. Detail common methods of genetic testing available in canada. Briefly explain the premise of gene therapy and current limitations to its widespread applicability. Genetic mutations: pe(cid:396)(cid:373)a(cid:374)e(cid:374)t (cid:272)ha(cid:374)ge i(cid:374) the dna se(cid:395)ue(cid:374)(cid:272)e, ca(cid:374) (cid:396)esult i(cid:374) ge(cid:374)eti(cid:272) di(cid:448)e(cid:396)sit(cid:455) as (cid:449)ell as disease, ca(cid:374) lead to p(cid:396)odu(cid:272)tio(cid:374) of a (cid:374)o(cid:448)el/alte(cid:396)ed/defe(cid:272)ti(cid:448)e p(cid:396)otei(cid:374) Cell function, pathways (metabolic, signal transduction, etc), structural components: ra(cid:374)ge i(cid:374) size. Single dna base segments of chromosome. Single/multi gene mutations: one or part of the pairs deleted, insertion, substitution.