Biology 2581B Study Guide - Sanger Sequencing, Expressed Sequence Tag, Shotgun Sequencing
3 Mar 2014
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Document Summary
In order to clone a gene without mapping information, we need information about family history and an idea of what might be causing the mutation and what its protein might be (biological as well as genetic information). Hemophilia a cloning & the blood clotting cascade: In this positional cloning example, we wish to find the gene causing hemophilia a, where patients of this disease fail to clot their blood (wounds keep on bleeding). In this same blood clotting cascade, coagulation factor ii (aka prothrombin) is cleaved to become thrombin (a serine protease), which then converts fibrinogen (soluble glycoprotein that doesn"t clot) to fibrin (insoluble fibre which does clot through cross-linkage). Blood tests can determine whether an active form of each factor involved in the clotting cascade is present. The results of such analyses show that many hemophiliacs, lack an active factor viii in their blood. Colony hybridization & the positional cloning of hemophilia a:
