BIO 1030 Lecture Notes - Lecture 36: Sickle-Cell Disease, Chromosome, Cri Du Chat
17 Apr 2017
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Document Summary
Genes and gene mutations: change in the sequence of bases in a gene, causes. Jumping genes- pieces of dna that move within and between chromosomes. Types and effects of mutations: many mutations go undetected- no observable effect, point mutations. Chromosomal mutations: in humans, only a few variations in number are typically seen. Down syndrome, turner syndrome: changes in chromosome structure are more common. Due to breakage and failure to reunite properly. Results in deletion, duplication, translocation, or inversion. Duplication: chromosome segment repeated, individual has more than 2 alleles for certain traits, inv dup 15 syndrome inverted duplication of chromosome 15. Inversion- segment joins in direction opposite from normal. Translocation: exchange of chromosome segments between two nonhomologous chromosomes, a person with both of the involved chromosomes has a normal amount of genetic material and is healthy unless the exchange disrupts the gene.
