Chromsome analysis

Chromosome analysisTechniques:1) KARYOTYPINGcells in mitosisgiemsa stain G-bandsChromsome painting ( fluorescent probes)Chromsome abberations:Aneuploidy: no longer an exact multiple of a typical haploid setMonosomy: only 1 X chromosome= X0 = Turner's syndromepolypolidy: number of whole chromosomes sets is greater than 2 e.g 63XXX (triploidy) and 92XXXX (tetraploidy) both are very rare.Chromosomal translocationidentifying a single gene change: Polymorphisms: Short Tandem Repeat (STR), micro satellitesvariable number tandem repeats (VNTR) mini satellitesSingle nucleotide polymorphisms (SNP)insertion/deletion polymorphism