MIMG CM156 Chapter Notes - Chapter 6: Chromosomal Translocation, Mitosis, Advanced Maternal Age
21 Aug 2016
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Cytogenetic/cytogenomiic abnormalities cause of both congenital & acquired disease. 1st recognized w/ downs syndrome: 47,xy,+21, all looked more like each other than their sibs. Clinical utilization of cytogenetics/genomics: children w/ birth defects or developmental probs. (blood), prenatal diagnosis (chronic villi or amniotic fluid), couples w/ reproductive probs. (blood), acquired changes in cancer. Fluorescence in situ hybridization (fish), chromosomal microarray analysis (cma) . Chromosome/karyotype analysis can only visualize chromosomes that are dividing, as only time dna condenses to make chrs. ; bands very distinctive for each chr, reflecting underlying organization of dna & protein, so even if relocates, retains banding pattern. Ideogram where all genes/bands are on chr. ; telomeres used in clinical lab to help study chrs. Need viable sample (have to grow cells in lab) Fish targeted technique, highly dependent on probe selection; take piece of dna (probe), put tag/dye, & allow dna to hybridize to chr.
