الفهرس 
Introduction And Aim Of The WorkIntroduction And Aim Of The Work
Mutations DetectionOnly 14 pages are availabe for public view
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Abstract
Genetic diseases are now progressively diagnosed allover the world. In the middle East, Duchenne muscular dystrophy (DMD) and gb sthalassemia are the most common genetic diseases. The multiplex polymerase chain reaction (MPCR) and ARMSPCR have greatly facilitated the screening of known mutations and molecular genetics diagnostic. The present work was planned to apply ARMSPCR and MPCR techniques for diagnosis of the genetic disorders (gb sthalassemia and DMD). This study included 37 patients diagnosed as DMD. Also 46 cases of gb sthalassemia, all patients were subjected to through history taking, through clinical examination and laboratory investigations including complete blood picture, hemoglobin electrophoresis and DNA technology. In the present study ARMSPCR technique capable of screening 93.8% of gb sglobin gene mutation in Egyptians population, including IVS 1nt 110, IVS1 nt 6, IVS 1 nt 1, IVS II nt 745, IVS II nt 1, CD39, CD37, CD6 <U+2013>A, CD27 and <U+2013>87. In our study the range of CPK level indicates that the level of CPK is deacreasing with increasing age and progress of the disease. In this work DNA analysis amplified by PCR and detection of different types of deletions using specific oligonucleotide primers. The primers used were in the form of 2030 bases in length including the F (forward) and R (reverse) primers specific for the following exonic parts of the D/BMD gene (PM, 3, 6, 8, 4, 12, 13, 17, 19, 21, 42, 43, 44, 45, 47, 48, 50, 51, 52, 53 and 60).