HSS 2305 Lecture Notes - Lecture 12: Triple X Syndrome, Edwards Syndrome, Amniocentesis
3 Nov 2016
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Document Summary
Can result in genetic diversity as well as disease. Can lead to production of a novel/altered/defective protein. Cell function, pathways (metabolic, signal transduction, etc) Single dna base > segments of chromosome. Deletion one base gets deleted and shifts the whole sequence down. Substitution one base is substituted into the sequence. Deletion a whole part of the chromosome is deleted. Duplication one area of the chromosome is duplicated. Translocation a part of the chromosome is placed at another part. Depends on what cell line the mutation occurs in. Acquired/somatic mutations occur in the dna of individual cells at some time during a person"s life. (environmental factors like uv and mistakes in dna replication) Somatic mutations occur in non-germline tissues and cannot be inherited. Hereditary/germline mutations mutations are passed from parent to child and it is present throughout a person"s life in virtually every cell in the body. Germline mutations present in egg or sperm and can be inherited.
