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In hematology frameshig mutaon can be seen in many

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Unformatted text preview: d Tay ­Sachs Tay ­Sachs disease is a autosomal recessive gene/c disorder. •  Deteriora/on of mental and physical abili/es. •  Common in some specific popula/ons. 17 •  A four base pair inser/on in exon 11 results in an altered reading frame for the HEXA gene on chr 15. •  Heterozygous carriers show abnormal enzyme ac/vity, but manifest no disease symptoms. The HEXA gene is located on the long (q) arm of human chromosome 15, between posi/ons 23 and 24. 18 Addi/onal Examples •  Polycys/c kidney disease caused by an inser/on in PKD1 on chr 16. •  Hypercholesterolemia (high cholesterol in the blood). •  In hematology, frameshiG muta/on can be seen in many hemoglobin disorders, including Hemoglobin Tak, hemoglobin Cranston and hemoglobin Pakse. 19 Dele/ons •  A dele/on is a muta/on in which part of a chromosome or a sequence of a DNA is missing •  Dele/ons also cause frameshiGs •  Small dele/ons not be fatal •  Large dele/ons are usually fatal •  medium ­sized dele/ons oGen lead to recognizable phenotypes (and in humans, disorders) 20 Types of Dele/ons Types of dele/on include the following: •  Terminal DeleAon: occurs towards the end of a chromosome. •  Intercalary DeleAon: occurs from the interior of a chromosome. •  Fusion gene: hybrid gene formed from two previously separate genes (commonly associated with cancer). 21 Effects of Dele/ons •  Responsible for an array of gene/c disorders, including infer/lity, Muscular dystrophy, rare gene/c disorders (i.e. Spinal muscular atrophy, Cri du chat) •  Recent work suggests that some dele/ons of highly conserved sequences (CONDELs) may be responsible for the evolu/onary differences present among closel...
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