BMS 460 Lecture Notes - Motor Neuron Disease, Basal Ganglia, Xist (Gene)

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26 Apr 2014
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Genetic information is stored on chromosomes, of which there are 23 pairs in each human cell. 22 pairs are autosomes, and they are numbered when arranged by size and shape in a diagnostic graphic termed a karyotype. The 23rd pair consists of the pair of sex chromosomes; males have xy, and females have xx. The chromosomes are made up of many genes, which are matched for a function (allele) at a specific location on the paired chromosomes. All cells in an individual"s body contain the same chromosomes and genes for the same traits (genotype), although not all genes are active in each cell. When a specific gene for a pathologic condition is identified, a dna analysis follows with the hope for the development of a simple blood test to screen individuals for the presence of that specific gene. During meiosis (gametogenesis), each human sperm and ovum receive only 23 chromosomes, that is, one chromosome from each pair (haploid).

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