1. No category

‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪90‬‬
‫»¬‪ʌÅÁ„aÄ·Z‬‬
‫ﺍﺭﺯﻳﺎﺑﻲ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺩﺭ ﺳﻄﺢ ﭘﺮﻭﺗﺌﻴﻦ ﺑﺎ ﺍﺳﺘﻔﺎﺩﻩ ﺍﺯﺗﻜﻨﻴﻚ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻲ‬
‫*‬
‫ﺍﻟﻬﺎﻡ ﺩﺍﺭﺍﺑﻰ‪ ،‬ﻛﻴﻤﻴﺎ ﻛﻬﺮﻳﺰﻯ‪ ،‬ﻓﺎﻃﻤﻪ ﺁﻗﺎﺧﺎﻧﻲ ﻣﻘﺪﻡ‪ ،‬ﺍﻟﻬﻪ ﻛﻴﻬﺎﻧﻰ‬
‫ﺩﺍﻧﺸﮕﺎﻩ ﻋﻠﻮﻡ ﺑﻬﺰﻳﺴﺘﻰ ﻭ ﺗﻮﺍﻥ ﺑﺨﺸﻰ‬
‫ﭼﻜﻴﺪﻩ‬
‫ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻛﻪ ﺍﻏﻠﺐ ﺑﻴﻤﺎﺭﻯﻫﺎﻯ ﭼﻨﺪ ﺳﻴﺴﺘﻤﻰ ﺑﺎ ﺿﻌﻒ ﭘﻴﺸﺮﻭﻧﺪﻩ ﻋﻀﻼﺕ ﺍﺳﻜﻠﺘﻰ ﻭ ﻧﻘﺺ ﺩﺭ ﭘﺮﻭﺗﺌﻴﻦﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻣﻰﺑﺎﺷﻨﺪ ﺑﻪ‬
‫‪ 9‬ﺩﺳﺘﻪ ﻣﺨﺘﻠﻒ ﺗﻘﺴﻴﻢ ﻣﻰﺷﻮﻧﺪ ﻛﻪ ﺍﺯ ﺍﻳﻦ ﻣﻮﺍﺭﺩ ﻣﻰﺗﻮﺍﻥ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰﻫﺎ‪،‬ﺩﻳﺴﺘﺮﻭﻓﻲ ﻋﻀﻼﻧﻲ ﻛﻤﺮﺑﻨﺪ ﺷﺎﻧﻪ ﺍﻱ ﻟﮕﻨﻲ ﻭ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ‬
‫ﻋﻀﻼﻧﻰ ﻣﺎﺩﺭﺯﺍﺩﻯ ﺍﺷﺎﺭﻩ ﻛﺮﺩ‪.‬‬
‫ﺗﺸﺨﻴﺺ ﻗﻄﻌﻰ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺎ ﺍﺳﺘﻔﺎﺩﻩ ﺍﺯ ﺷﻮﺍﻫﺪ ﺑﺎﻟﻴﻨﻰ ﻭﺗﻜﻨﻴﻚﻫﺎﻯ ﺁﺯﻣﺎﻳﺸﮕﺎﻫﻰ ﺍﺯ ﺟﻤﻠﻪ ﺍﻧﺪﺍﺯﻩ ﮔﻴﺮﻯ ﻓﻌﺎﻟﻴﺖ ﺁﻧﺰﻳﻢ ‪ ،CK‬ﺍﻭﻟﺘﺮﺍ ﺳﻮﻧﻮﮔﺮﺍﻓﻰ‬
‫ﻳﺎ ﺍﻟﻜﺘﺮﻭﻣﻴﻮﮔﺮﺍﻓﻰ ﻭ ﺁﺯﻣﺎﻳﺶﻫﺎﻯ ﻣﻮﻟﻜﻮﻟﻰ ‪ PCR‬ﻭ ﻧﻴﺰ ﺍﻧﺠﺎﻡ ﺑﻴﻮﭘﺴﻰ ﻋﻀﻠﻪ ﺑﻪ ﻣﻨﻈﻮﺭ ﺍﺳﺘﻔﺎﺩﻩ ﺩﺭ ﺍﻣﺮ ﻣﺸﺎﻭﺭﻩ ژﻧﺘﻴﻚ‪ ،‬ﺍﺳﺘﻔﺎﺩﻩ ﺍﺯ ﺩﺭﻣﺎﻥﻫﺎﻯ‬
‫ﺍﺣﺘﻤﺎﻟﻰ ﺁﻳﻨﺪﻩ‪،‬ﺗﺸﺨﻴﺺ ﭘﻴﺶ ﺍﺯ ﺗﻮﻟﺪ ﻭﻛﺎﻫﺶ ﻭﻗﻮﻉ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺩﺭ ﺳﻄﺢ ﺟﺎﻣﻌﻪ ﺿﺮﻭﺭﻯ ﺍﺳﺖ‪.‬‬
‫ﺍﺯ ﺍﻳﻦ ﺭﻭ ﺑﺮﺍﻯ ﺍﻭﻟﻴﻦ ﺑﺎﺭ ﺩﺭ ﺍﻳﺮﺍﻥ ﻭ ﺩﺭ ﻓﺎﺻﻠﻪ ﺳﺎﻝﻫﺎﻱ ‪ 1384‬ﺗﺎ ‪ 1388‬ﺟﻬﺖ ﺗﺸﺨﻴﺺ ﻭ ﺍﻓﺘﺮﺍﻕ ﺩﻳﺴﺘﺮﻭﻓﻲﻫﺎﻱ ﻋﻀﻼﻧﻲ ﺩﺭ ﺳﻄﺢ ﭘﺮﻭﺗﺌﻴﻦ‬
‫ﺑﺮ ﺭﻭﻯ ‪ 72‬ﺑﻴﻤﺎﺭ ﺑﻴﻮﭘﺴﻰ ﻋﻀﻠﻪ ﻭ ﺑﻪ ﺩﻧﺒﺎﻝ ﺁﻥ ﺑﺮﺭﺳﻰﻫﺎﻯ ﻫﻴﺴﺘﻮﭘﺎﺗﻮﻟﻮژﻯ ﻭ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺍﻧﺠﺎﻡ ﮔﺮﻓﺖ‪.‬‬
‫ﺩﺭ ﻣﺠﻤﻮﻉ ‪ 44‬ﺑﻴﻤﺎﺭ ﺑﺎ ﺭﻭﺵﻫﺎﻯ ﻣﺬﻛﻮﺭ ﺷﻨﺎﺳﺎﻳﻰ ﺷﺪ ﻛﻪ ﺍﺯ ﺁﻥﻫﺎ ‪ 24‬ﺑﻴﻤﺎﺭ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰ ﺷﺎﻣﻞ ‪ 6‬ﺑﻴﻤﺎﺭ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺩﻭﺷﻦ ﻭ ‪18‬‬
‫ﺑﻴﻤﺎﺭ ﻣﺸﻜﻮﻙ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺑﻜﺮ‪ 14 ،‬ﺑﻴﻤﺎﺭ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻟﻴﻤﺐ‪-‬ﮔﻴﺮﺩﻝ ﺷﺎﻣﻞ‪ 11‬ﺑﻴﻤﺎﺭ ﻣﺒﺘﻼ ﺑﻪ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻧﻮﭘﺎﺗﻰ ﻭ‪ 3‬ﺑﻴﻤﺎﺭ‬
‫ﺩﻳﺴﻔﺮﻟﻴﻨﻮﭘﺎﺗﻰ ﻭﻧﻴﺰ‪ 6‬ﺑﻴﻤﺎﺭ ﺑﺎ ﻓﻘﺪﺍﻥ ﻣﺮﻭﺯﻳﻦ )ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻣﺎﺩﺭﺯﺍﺩﻯ( ﺑﻮﺩﻧﺪ‪ .‬ﻧﻤﻮﻧﻪﻫﺎﻯ ﺑﺎﻓﺖ ‪ 28‬ﺑﻴﻤﺎﺭ ﺩﻳﮕﺮ ﻛﻪ ﺑﺎ ﺁﻧﺘﻰ ﺑﺎﺩﻯﻫﺎﻯ ﻣﻮﺭﺩ‬
‫ﺍﺳﺘﻔﺎﺩﻩ ﺩﺭ ﺍﻳﻦ ﻣﻄﺎﻟﻌﻪ ﻧﺘﻴﺠﻪ ﻣﺸﺨﺼﻰ ﺭﺍ ﻧﺸﺎﻥ ﻧﺪﺍﺩﻧﺪ ﺟﻬﺖ ﻣﻄﺎﻟﻌﺎﺕ ﺑﻌﺪﻯ ﻣﻮﺭﺩ ﺍﺳﺘﻔﺎﺩﻩ ﻗﺮﺍﺭ ﺧﻮﺍﻫﻨﺪ ﮔﺮﻓﺖ‪.‬‬
‫ﻭﺍژﮔﺎﻥ ﻛﻠﻴﺪﻯ‪ :‬ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ؛ ﺗﺸﺨﻴﺺ؛ ﭘﺮﻭﺗﺌﻴﻦ؛ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ‪.‬‬
‫ﻣﻘﺪﻣﻪ‬
‫ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ‪ 1‬ﻳﻚ ﮔﺮﻭﻩ ﺍﺭﺛﻰ ﺍﺯ ﺍﻧﻮﺍﻉ ﺑﻴﻤﺎﺭﻯﻫﺎﻯ ﻋﺼﺒﻰ‪-‬‬
‫ﻋﻀﻼﻧﻰ ﻣﻰﺑﺎﺷﻨﺪ )‪ (1‬ﻭ ﺑﺎ ﺿﻌﻒ ﭘﻴﺸﺮﻭﻧﺪﻩ ﻋﻀﻼﺕ ﺍﺳﻜﻠﺘﻰ‪ ،‬ﻧﻘﺺ ﺩﺭ‬
‫ﭘﺮﻭﺗﺌﻴﻦﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻭ ﻣﺮگ ﺳﻠﻮﻝﻫﺎ ﻭ ﺑﺎﻓﺖﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻣﺸﺨﺺ‬
‫ﻣﻰﺷﻮﻧﺪ )‪ .(2‬ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻣﻌﻤﻮﻻ ﺑﻴﻦ ﺳﻨﻴﻦ ‪ 6-3‬ﺳﺎﻟﮕﻰ‬
‫ﺑﺮﻭﺯ ﻣﻰﻳﺎﺑﻨﺪ ﻭﺍﻭﻟﻴﻦ ﻧﺸﺎﻧﻪﻫﺎ‪ ،‬ﺗﺎﺧﻴﺮ ﺩﺭ ﺑﻪ ﺭﺍﻩ ﺍﻓﺘﺎﺩﻥ ﻭﺿﻌﻒ ﻋﻀﻼﺕ‬
‫* ﺍﻟﻬﻪ ﻛﻴﻬﺎﻧﻰ‪MD،‬‬
‫ﺍﺳﺘﺎﺩﻳﺎﺭﭘﺎﺗﻮﻟﻮژﻯ‪،‬ﻣﺮﻛﺰﺗﺤﻘﻴﻘﺎﺕژﻧﺘﻴﻚ‪،‬ﺩﺍﻧﺸﮕﺎﻩﻋﻠﻮﻡﺑﻬﺰﻳﺴﺘﻰﻭﺗﻮﺍﻧﺒﺨﺸﻰ‬
‫ﺍﻭﻳﻦ‪-‬ﺑﻠﻮﺍﺭﺩﺍﻧﺸﺠﻮ‪-‬ﺧﻴﺎﺑﺎﻥﻛﻮﺩﻛﻴﺎﺭ‬
‫ﺗﻠﻔﻦ‪021-22180138:‬‬
‫ﺷﺎﻧﻪ ﻭﻟﮕﻦ ﻣﻰﺑﺎﺷﻨﺪ‪ .‬ﻋﻼﺋﻢ ﻛﻠﻰ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﺷﺎﻣﻞ‪ :‬ﺍﻧﺤﻨﺎﻯ ﻃﺮﻓﻰ‬
‫ﺳﺘﻮﻥ ﻣﻬﺮﻩﻫﺎ‪ ،‬ﺿﻌﻒ ﺩﺭ ﺣﻔﻆ ﺗﻌﺎﺩﻝ‪ ،‬ﺍﻓﺘﺎﺩﻥﻫﺎﻯ ﻣﻜﺮﺭ‪ ،‬ﺑﺪ ﺷﻜﻠﻰ‬
‫ﻋﻀﻠﻪ ﺳﺎﻕ ﭘﺎ‪ ،‬ﻣﺸﻜﻼﺕ ﺗﻨﻔﺴﻰ ﻭ ﻣﺸﻜﻼﺕ ﻗﻠﺒﻰ ﺍﺳﺖ )‪ .(3‬ﻋﻠﺖ‬
‫ﺍﻳﻦ ﺑﻴﻤﺎﺭﻯﻫﺎ ﻧﻘﺺ ﺩﺭژﻥﻫﺎﻳﻰ ﺍﺳﺖ ﻛﻪ ﻣﺴﺌﻮﻝ ﺣﺮﻛﺖ ﻃﺒﻴﻌﻲ ﻋﻀﻠﻪ‬
‫ﻫﺴﺘﻨﺪ‪ .‬ﺍﻳﻦ ﺑﻴﻤﺎﺭﻱﻫﺎ ﺭﺍ ﺑﺮ ﺍﺳﺎﺱ ﺍﻳﻦ ﻛﻪ ﻧﻘﺺ ﺩﺭ ﻛﺪﺍﻣ ﮋﻥ ﻭ ﺩﺭ ﻧﺘﻴﺠﻪ‬
‫ﻛﺪﺍﻡ ﭘﺮﻭﺗﺌﻴﻦ ﺳﺎﺧﺘﺎﺭﻱ ﻋﻀﻠﻪ ﺑﺎﺷﺪ ﺑﻪ ‪ 9‬ﺯﻳﺮ ﮔﺮﻭﻩ ﺗﻘﺴﻴﻢ ﻣﻲﻛﻨﻨﺪ )‪:(4‬‬
‫‪ ‬ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺩﻭﺷﻦ‪ 2‬ﺑﺎ ﺷﻴﻮﻉ ‪ 1‬ﺩﺭ ‪ 3500‬ﺗﻮﻟﺪ ﭘﺴﺮ‬
‫ﺯﻧﺪﻩ ﺩﺍﺭﺍﻯ ﺷﺪﻳﺪﺗﺮﻳﻦ ﻋﻼﺋﻢ ﺍﺳﺖ ﻭ ﻭﻗﻮﻉ ﺁﻥ ﺑﻴﻦ ‪ 6-2‬ﺳﺎﻟﮕﻰ ﺑﻮﺩﻩ‬
‫ﻭ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﻗﺒﻞ ﺍﺯ ‪ 18‬ﻣﺎﻫﮕﻰ ﺷﺮﻭﻉ ﺑﻪ ﺭﺍﻩ ﺭﻓﺘﻦ ﻧﻤﻰ ﻛﻨﻨﺪ‪ .‬ﻋﻼﺋﻢ‬
‫ﭘﺴﺖﺍﻟﻜﺘﺮﻭﻧﻴﻚ‪uswr.ac.ir@ekeyhani1058:‬‬
‫ﺗﺎﺭﻳﺦ ﺩﺭﻳﺎﻓﺖ‪1390/7/13:‬‬
‫ﺗﺎﺭﻳﺦ ﭘﺬﻳﺮﺵ‪1390/9/20:‬‬
‫‪2462‬‬
‫‪1. .Muscular Dystrophy‬‬
‫)‪2. Duchenn Muscular Dystrophy(DMD‬‬
‫ﺍﻟﻬﺎﻡ ﺩﺍﺭﺍﺑﻰ‪ ،‬ﻛﻴﻤﻴﺎ ﻛﻬﺮﻳﺰﻯ‪ ،‬ﻓﺎﻃﻤﻪ ﺁﻗﺎﺧﺎﻧﻲ ﻣﻘﺪﻡ ﻭ ﻫﻤﻜﺎﺭﺍﻥ‬
‫ﺁﻥ ﺷﺎﻣﻞ ﺿﻌﻒ ﻋﻤﻮﻣﻰ ﻭ ﺗﺤﻠﻴﻞ ﻋﻀﻼﺕ ﺍﺳﺖ ﻛﻪ ﺍﺑﺘﺪﺍ ﻋﻀﻼﺕ‬
‫ﺍﻧﺪﺍﻡ ﺗﺤﺘﺎﻧﻰ ﺭﺍ ﺩﺭ ﮔﻴﺮ ﻣﻰﻛﻨﺪ‪ .‬ﺑﺰﺭگ ﺷﺪﻥ ﻋﻀﻠﻪ ﭘﺸﺖ ﺳﺎﻕ ﭘﺎ ﻧﻴﺰ‬
‫ﺍﻏﻠﺐ ﺍﺗﻔﺎﻕ ﻣﻰﺍﻓﺘﺪ‪.‬ﻧﻘﺺ ﺿﺮﻳﺐ ﻫﻮﺷﻲ ﺩﺭ ‪ 1/3‬ﻣﻮﺍﺭﺩ ﺩﻳﺪﻩ ﻣﻲﺷﻮﺩ‪.‬‬
‫ﻗﻠﺐ ﻭ ﻋﻀﻼﺕ ﺗﻨﻔﺴﻰ ﻧﻴﺰ ﺩﺭ ﮔﻴﺮ ﺑﻮﺩﻩ ﻭ ﻣﺮگ ﻗﺒﻞ ﺍﺯ ‪ 30‬ﺳﺎﻟﮕﻰ‬
‫ﺣﺎﺩﺙ ﻣﻰﺷﻮﺩ‪.‬‬
‫‪ ‬ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺑﻜﺮ‪ 3‬ﻛﻪ ﻧﻮﻉ ﺧﻔﻴﻒ ﻣﺨﺮﺏ ﻋﻀﻼﺕ‬
‫ﺍﺳﻜﻠﺘﻰ ﺍﺳﺖ ﻣﻌﻤﻮﻻ ﺩﺭ ﺑﺰﺭﮔﺴﺎﻟﻰ ﺑﺮﻭﺯ ﻣﻰﻛﻨﺪ‪ ،‬ﻋﻼﺋﻢ ﺩﻭﺷﻦ ﺭﺍ ﺑﻪ‬
‫ﻃﻮﺭ ﺧﻔﻴﻒ ﺗﺮ ﺩﺍﺭﺍﺳﺖ ﻭ ﺑﻪ ﺁﺭﺍﻣﻰ ﭘﻴﺸﺮﻓﺖ ﻣﻰﻛﻨﺪ‪ .‬ﺷﻴﻮﻉ ﺁﻥ ‪1‬‬
‫ﺩﺭ‪ 30000‬ﺍﺳﺖ ﻭﺍﻓﺮﺍﺩ ﻣﺒﺘﻼ ﺗﺎ ﭘﺎﻳﺎﻥ ﺑﺰﺭﮔﺴﺎﻟﻰ ﺯﻧﺪﻩ ﻣﻲﻣﺎﻧﻨﺪ )‪4‬ﻭ‪.(5‬‬
‫‪ ‬ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺍﻣﺮﻯ ﺩﺭﻳﻔﻴﻮﺯ‪ 4‬ﻳﻚ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻧﺎ ﺷﺎﻳﻊ‬
‫ﻭﺍﺑﺴﺘﻪ ﺑﻪ ‪ X‬ﻳﺎ ﺟﺴﻤﻰ ﻏﺎﻟﺐ ﺍﺳﺖ ﻛﻪ ﺑﺎ ﺍﻧﻘﺒﺎﺿﺎﺕ ﻭ ﻛﺎﺭﺩﻳﻮﻣﻴﻮﭘﺎﺗﻰ‬
‫ﺯﻭﺩﺭﺱ ﺩﺭ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺮﻭﺯ ﻣﻰﻛﻨﺪ ﻭ ﻋﻼﺋﻢ ﺷﺎﻣﻞ ﺍﻧﻘﺒﺎﺿﺎﺕ‪ ،‬ﺳﻔﺘﻰ‬
‫ﻋﻀﻼﺕ ﻛﻤﺮﻭ ﻧﺎﻫﻨﺠﺎﺭﻯﻫﺎﻯ ﻗﻠﺒﻰ ﺍﺳﺖ ﻭ ﻣﺮگ ﺩﺭ ﺩﻫﻪ ‪ 40‬ﻳﺎ ‪ 50‬ﺩﺭ‬
‫ﻧﺘﻴﺠﻪ ﮔﺮﻓﺘﺎﺭﻯ ﺳﺮﺧﺮﮔﻰ ﻭ ﺩﻫﻠﻴﺰﻯ ﺍﺗﻔﺎﻕ ﻣﻰﺍﻓﺘﺪ )‪.(5‬‬
‫‪5‬‬
‫‪ ‬ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻛﻤﺮﺑﻨﺪ ﺷﺎﻧﻪ ﺍﻯ‪ -‬ﻟﮕﻨﻰ ﺩﺭ ﺍﺛﺮ‬
‫ﺟﻬﺶ ﺩﺭ ﺑﻴﺶ ﺍﺯ ‪ 15‬ژﻥ ﻣﺨﺘﻠﻒ ﺗﻮﻟﻴﺪ ﻛﻨﻨﺪﻩ ﭘﺮﻭﺗﺌﻴﻦﻫﺎﻯ ﺿﺮﻭﺭﻯ‬
‫ﺑﺮﺍﻯ ﻋﻤﻠﻜﺮﺩ ﻋﻀﻠﻪ ﺍﺗﻔﺎﻕ ﻣﻰﺍﻓﺘﺪ‪.‬ﻓﺮﻡ ﻣﻐﻠﻮﺏ ﺁﻥ ﺷﺎﻳﻌﺘﺮ ﺍﺯ ﻓﺮﻡ‬
‫ﻏﺎﻟﺐ ﺍﺳﺖ ‪.‬ﺑﺮﻭﺯ ﺍﻳﻦ ﺑﻴﻤﺎﺭﻯ ﺩﺭ ﺟﻤﻌﻴﺖﻫﺎﻱ ﻣﺨﺘﻠﻒ ‪ 70-5‬ﻧﻔﺮ‬
‫ﺍﺯ ﻳﻚ ﻣﻴﻠﻴﻮﻥ ﺍﺳﺖ‪ .‬ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻧﻮﭘﺎﺗﻰﻫﺎ ﻓﺮﺍﻭﺍﻥ ﺗﺮﻳﻦ ﺯﻳﺮﮔﺮﻭﻩ‬
‫ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻛﻤﺮﺑﻨﺪ ﺷﺎﻧﻪ ﺍﻯ‪ -‬ﻟﮕﻨﻰ ﻫﺴﺘﻨﺪ ﻭ ﻧﻴﺰﻋﺎﻣﻞ‬
‫‪ ٪18-3‬ﺍﻳﻦ ﺑﻴﻤﺎﺭﻯﻫﺎ ﻭ ﻋﺎﻣﻞ ﺩﺭ ﺻﺪ ﺑﺎﻻﻳﻰ ﺍﺯ ﻣﻮﺍﺭﺩ ﺷﺪﻳﺪ ﻣﻰﺑﺎﺷﻨﺪ‪.‬‬
‫‪ LGMD2A‬ﺷﺎﻳﻌﺘﺮﻳﻦ ﺁﻥﻫﺎ ﻭ ﺷﺎﻣﻞ ‪LGMD 26-8٪‬ﻫﺎ ﻭ ﭘﺲ‬
‫ﺍﺯ ﺁﻥ ‪ 19-3٪) LGMD2B‬ﻣﻮﺍﺭﺩ( ﻧﺴﺒﺘﺎ ﺷﺎﻳﻊ ﺍﺳﺖ )‪.(6‬‬
‫‪ ‬ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻣﺎﺩﺭﺯﺍﺩﻯ‪ 6‬ﺷﺎﻣﻞ ﻃﻴﻒ ﻭﺳﻴﻌﻰ ﺍﺯ‬
‫ﻋﻼﺋﻢ ﺍﺳﺖ‪ .‬ﺗﺤﻠﻴﻞ ﻋﻀﻼﺕ ﻣﻼﻳﻢ ﺗﺎ ﺷﺪﻳﺪ ﺑﻮﺩﻩ ﻭ ﻣﻤﻜﻦ ﺍﺳﺖ‬
‫ﻋﻼﺋﻢ ﺗﻨﻬﺎ ﺑﻪ ﻋﻀﻼﺕ ﺍﺳﻜﻠﺘﻰ ﻣﺤﺪﻭﺩ ﺑﻮﺩﻩ ﻭﻳﺎ ﺳﺎﻳﺮ ﺍﻋﻀﺎ ﻭ ﻣﻐﺰ ﺭﺍﻧﻴﺰ‬
‫ﺩﺭﺑﺮﮔﻴﺮﺩ‪ .‬ﻋﻼﺋﻢ ﺩﺭ ﻧﻮﺯﺍﺩﺍﻥ ﻣﻰﺗﻮﺍﻧﺪ ﺷﺎﻣﻞ ﺿﻌﻒ ﺷﺪﻳﺪ ﻋﻀﻼﺕ‪،‬‬
‫ﺳﺨﺘﻰ ﺩﺭﻣﻜﻴﺪﻥ ﻭ ﺑﻠﻊ‪ ،‬ﺳﺨﺘﻰ ﺗﻨﻔﺲ ﻭ ﻧﻘﺎﺋﺺ ﺷﻨﺎﺧﺘﻰ ﺑﺎﺷﺪ )‪3‬ﻭ‪.(7‬‬
‫ﭘﺎﺗﻮژﻧﺰ‪:‬ﻋﺎﻣﻞ ﺑﻴﻤﺎﺭﻱ ﺯﺍﻳﻲ ﺩﺭ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺩﻭﺷﻦ ﻭ ﺑﻜﺮ‬
‫ﻧﻘﺺ ﺩﺭ ﭘﺮﻭﺗﺌﻴﻦ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ‪ 7‬ﺑﺎ ﻣﺤﻞ ژﻧﻰ ‪ Xp21‬ﺍﺳﺖ ﻛﻪ ﺍﻳﻦ‬
‫ژﻥ ﺑﺎ ﺳﺎﻳﺰ ‪ Mb2‬ﻣﺴﺘﻌﺪ ﺍﻳﺠﺎﺩ ﺟﻬﺶﻫﺎﻯ ﺑﺴﻴﺎﺭ ﻣﻰﺑﺎﺷﺪ‪ .‬ﺑﻴﺎﻥ ﺍﻳﻦ‬
‫ﭘﺮﻭﺗﺌﻴﻦ ﺩﺭ ﺑﺎﻓﺖﻫﺎﻱ ﻋﻀﻠﻪ‪ ،‬ﻗﻠﺐ ﻭ ﻣﻐﺰ ﻣﻰﺑﺎﺷﺪ‪ .‬ﻧﻘﺺﻫﺎﻯ ﺗﻮﺍﻟﻰ‬
‫ﺗﻨﻈﻴﻤﻰ ﻳﺎ ﺗﻐﻴﻴﺮ ﺩﺭ ﻗﺎﻟﺐ ﺧﻮﺍﻧﺪﻥ ﻛﻪ ﺍﻳﺠﺎﺩ ﭘﺮﻭﺗﺌﻴﻦ ﻧﺎﭘﺎﻳﺪﺍﺭ ﻭ ﻧﺎﻛﺎﺭﺁﻣﺪ‬
‫ﻣﻰﻛﻨﺪ ﺑﺎﻋﺚ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺩﻭﺷﻦ ﻭ ﺟﻬﺶﻫﺎﻯ ﺑﺎ ﺍﺛﺮ ﻛﻤﺘﺮ ﺑﺮ‬
‫ﭘﺮﻭﺗﺌﻴﻦ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﻣﻮﺟﺐ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺑﻜﺮ ﻣﻰﺷﻮﺩ‪.‬‬
‫ﺳﺎﻳﺮ ﺍﻧﻮﺍﻉ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺑﺎ ﺗﻐﻴﻴﺮ ﻛﺪ ژﻧﺘﻴﻜﻰ ﺩﺭ‬
‫ﭘﺮﻭﺗﺌﻴﻦﻫﺎﻯ ﻭﺍﺑﺴﺘﻪ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ‪ 8‬ﺩﺭ ﻣﺤﻞﻫﺎﻯ ﻛﺮﻭﻣﻮﺯﻭﻣﻰ ﺧﺎﺭﺝ‬
‫ﺍﺯ ‪ X‬ﺍﻳﺠﺎﺩ ﺷﺪﻩ ﻭ ﻣﻮﺟﺐ ﺗﻐﻴﻴﺮ ﻧﻔﻮﺫ ﭘﺬﻳﺮﻯ ﺳﻠﻮﻝ ﻣﻰﺷﻮﻧﺪ‪ .‬ﺍﮔﺮﭼﻪ‬
‫ﺑﻪ ﻟﺤﺎﻅ ﻣﻜﺎﻧﻴﺰﻡﻫﺎﻯ ﻋﻤﻞ ﻣﺘﻔﺎﻭﺕ ﻭ ﻣﺤﻞ ﻣﺤﺼﻮﻻﺕ ژﻧﻰ ﻣﺘﻔﺎﻭﺕ‬
‫ﺩﺭ ﺑﺪﻥ‪ ،‬ﺑﺎﻋﺚ ﺍﺛﺮﺍﺕ ﺩﻳﮕﺮﻯ ﻧﻴﺰ ﻣﻰﮔﺮﺩﻧﺪ ﻣﺎﻧﻨﺪ ﺁﻧﭽﻪ ﺩﺭ ﺩﻳﺴﺘﺮﻭﻓﻰ‬
‫ﻋﻀﻼﻧﻰ ‪ LGMD‬ﺩﻳﺪﻩ ﻣﻰﺷﻮﺩ )‪.(5‬‬
‫ﺑﺮﺍﻯ ﺗﺸﺨﻴﺺ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﻋﻼﻭﻩ ﺑﺮ ﺩﺭ ﻧﻈﺮ ﺩﺍﺷﺘﻦ‬
‫ﺷﺠﺮﻩ ﺧﺎﻧﻮﺍﺩﮔﻲ‪،‬ﻣﻌﺎﻳﻨﻪ ﻓﻴﺰﻳﻜﻲ ﻛﺎﻣﻞ ﺗﻮﺳﻂ ﻳﻚ ﭘﺰﺷﻚ ﺑﺎﺗﺠﺮﺑﺔ‬
‫ﺳﻨﺠﺶﻫﺎﻱ ﭘﺎﺭﺍﻛﻠﻴﻨﻴﻚ ﺯﻳﺮ ﺑﺴﻴﺎﺭ ﻛﻤﻚ ﻛﻨﻨﺪﻩ ﻭ ﺑﻌﻀﺎ ﺿﺮﻭﺭﻱ‬
‫ﻫﺴﺘﻨﺪ‪:‬‬
‫‪‬ﺳﻨﺠﺶ ‪ CK‬ﺳﺮﻡ‪ :9‬ﻣﻴﺰﺍﻥ ﺁﻥ ﺩﺭ ﻣﺮﺍﺣﻞ ﺍﻭﻟﻴﻪ ﺑﻴﻤﺎﺭﻯ‬
‫‪‬‬
‫‪ 500-300‬ﺑﺎﺭﺑﻴﺶ ﺍﺯ ﺳﻄﺢ ﻃﺒﻴﻌﻲ ﺧﻮﺍﻫﺪ ﺑﻮﺩ ﻛﻪ ﺑﺎ ﻛﺎﻫﺶ ﺗﻮﺩﻩ‬
‫ﻋﻀﻼﺕ ﻛﺎﻫﺶ ﻣﻴﺎﺑﺪ‪ .‬ﺍﻟﺒﺘﻪ ﻣﻴﺰﺍﻥ ﺑﺎﻻﻯ ‪ CK‬ﻛﻪ ﻧﺸﺎﻧﻪ ﻧﺸﺖ ﺁﻧﺰﻳﻢ‬
‫ﺍﺯﺳﻠﻮﻝﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺍﺳﺖ ﺩﻗﻴﻘﺎ ﺑﻪ ﺷﺪﺕ ﺑﻴﻤﺎﺭﻯ ﻭﺍﺑﺴﺘﻪ ﻧﻴﺴﺖ‪ .‬ﺩﺭ‬
‫ﺻﻮﺭﺕ ﺑﺪ ﻋﻤﻠﻜﺮﺩﻯ ﻛﺒﺪ ﺩﺭ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﻣﻤﻜﻦ ﺍﺳﺖ ﻣﻘﺎﺩﻳﺮ ﺑﺎﻻ ﺭﻓﺘﻪ‬
‫‪ CK‬ﺗﻐﻴﻴﺮ ﻳﺎﺑﺪ‪.‬‬
‫‪‬‬
‫‪‬ﻣﻮﻟﺘﻰ ﭘﻠﻜﺲ ‪ :PCR10‬ﺍﻳﻦ ﺗﺴﺖ ﺑﺮﺍﻯ ﻏﺮﺑﺎﻟﮕﺮﻯ ﺣﺬﻑﻫﺎﻯ‬
‫ژﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺑﺎ ﺑﻪ ﻛﺎﺭ ﺑﺮﺩﻥ ﭘﺮﺍﻳﻤﺮﻫﺎﻯ ﺍﺧﺘﺼﺎﺻﻰ ﻛﻪ ﻧﻮﺍﺣﻰ ﺩﺍﻍ‬
‫ﺑﺮﺍﻯ ﺟﻬﺶ ﺭﺍ ﺗﻜﺜﻴﺮ ﻣﻰﻛﻨﺪ ﺍﻧﺠﺎﻡ ﻣﻰﺷﻮﺩ ﻛﻪ ﺍﻳﻦ ﻧﻮﺍﺣﻰ ﺷﺎﻣﻞ‬
‫ﺩﻭﻧﺎﺣﻴﻪ ﺍﺯ ﺍﮔﺰﻭﻥﻫﺎﻯ ‪ 30-3‬ﻭ ﺍﮔﺰﻭﻥﻫﺎﻯ ‪ 55-44‬ﻣﻰﺑﺎﺷﻨﺪ‪PCR .‬‬
‫ﺩﺭ ﻣﺠﻤﻮﻉ ﻣﻰﺗﻮﺍﻧﺪ ‪ 98٪‬ﺣﺬﻑﻫﺎﻯ ﻣﻮﺟﻮﺩ ﺭﺍ ﺗﺸﺨﻴﺺ ﺩﻫﺪ‪.‬‬
‫‪‬ﺍﻭﻟﺘﺮﺍﺳﻮﻧﻮﮔﺮﺍﻓﻰ‪ :11‬ﺍﻳﻦ ﺭﻭﺵ ﺑﻪ ﻋﻨﻮﺍﻥ ﺭﻭﺷﻰ ﻏﻴﺮ ﺗﻬﺎﺟﻤﻰ‬
‫‪‬‬
‫ﺑﺮﺍﻯ ﻏﺮﺑﺎﻟﮕﺮﻯ ﺑﻴﻤﺎﺭﺍﻥ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻣﻄﺮﺡ ﺍﺳﺖ ﻭ ﺑﻪ‬
‫ﺳﺮﻋﺖ ﺩﺭ ﻣﺮﺍﻛﺰﻯ ﻛﻪ ﻛﺎﺭﻛﻨﺎﻥ ﺁﻣﻮﺯﺵ ﺩﻳﺪﻩ ﺩﺍﺷﺘﻪ ﺍﻧﺪ ﺟﺎﻳﮕﺰﻳﻦ‬
‫ﺍﻟﻜﺘﺮﻭﻣﻴﻮﮔﺮﺍﻓﻰ‪ 12‬ﺷﺪﻩ ﺍﺳﺖ‪ .‬ﺍﻳﻦ ﺭﻭﺵ ﺣﺘﻰ ﺩﺭ ﻣﺮﺍﺣﻞ ﺍﻭﻟﻴﻪ ﺑﻴﻤﺎﺭﻯ‬
‫ﺍﻛﻮژﻧﻴﺴﻴﺘﻪ ﺍﻓﺰﺍﻳﺶ ﻳﺎﻓﺘﻪ ﺭﺍ ﺩﺭ ﻋﻀﻼﺕ ﻭ ﻧﻴﺰ ﻛﺎﻫﺶ ﺁﻥ ﺭﺍ ﺩﺭ‬
‫ﺍﺳﺘﺨﻮﺍﻥﻫﺎﻯ ﻣﺮﺑﻮﻃﻪ ﻧﺸﺎﻥ ﻣﻰﺩﻫﺪ‪ .‬ﺍﻭﻟﺘﺮﺍﺳﻮﻧﻮﮔﺮﺍﻓﻰ ﺑﻪ ﺩﻟﻴﻞ ﻏﻴﺮ‬
‫)‪3. Becker Muscular Dystrophy(BMD‬‬
‫)‪4. Emery Dreifuss Muscular Dystrophy(EDMD‬‬
‫)‪5. Limb-Girdle Muscular Dystrophy(LGMD‬‬
‫)‪6. Congenital Muscular Dystrophy(CMD‬‬
‫‪7. Dystrophin‬‬
‫)‪8. Dystrophin Associated Proteins(DAP‬‬
‫)‪9.Serum ceratin kinase(CK‬‬
‫‪10. Polimerase chain reaction‬‬
‫‪11. Ultrasonography‬‬
‫)‪12. Electromyography, (EMG‬‬
‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪2463 90‬‬
‫ﺍﺭﺯﻳﺎﺑﻰ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺩﺭ ﺳﻄﺢ ﭘﺮﻭﺗﺌﻴﻦ‬
‫ﺗﻬﺎﺟﻤﻰ ﺑﻮﺩﻥ ﻭ ﺍﻣﻜﺎﻥ ﺑﺮﺭﺳﻰ ﺍﺩﺍﻣﻪ ﺩﺍﺭ ﺭﻭﻧﺪ ﺑﻴﻤﺎﺭﻯ ﺭﻭﺵ ﻣﻨﺎﺳﺒﻲ‬
‫ﺍﺳﺖ )‪.(8‬‬
‫‪13‬‬
‫‪‬ﺑﻴﻮﭘﺴﻰ ﻋﻀﻠﻪ‪ :‬ﺍﻳﻦ ﺍﻗﺪﺍﻡ ﺩﺭ ﺗﺸﺨﻴﺺ ﺑﻴﻤﺎﺭﺍﻥ ﻋﺼﺒﻰ‪-‬‬
‫‪‬‬
‫ﻋﻀﻼﻧﻰ ﻧﻘﺶ ﺍﺳﺎﺳﻰ ﺩﺍﺭﺩ ﻭ ﺑﻪ ﺟﺰ ﻣﻮﺍﺭﺩ ﺍﺳﺘﺜﻨﺎ ﺍﻳﻦ ﺍﻣﺮ ﻳﻚ ﺍﻗﺪﺍﻡ‬
‫ﺿﺮﻭﺭﻯ ﺩﺭ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ ﻣﻴﻮﭘﺎﺗﻰ ﻣﺤﺴﻮﺏ ﻣﻰﺷﻮﺩ‪ .‬ﻧﻤﻮﻧﻪ ﺑﻪ‬
‫ﺻﻮﺭﺕ ﻣﻨﺠﻤﺪ ﻭ ﻓﺮﻣﺎﻟﻴﻨﻪ ﺑﻪ ﺗﺮﺗﻴﺐ ﺑﻪ ﻣﻨﻈﻮﺭ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ‪ 14‬ﻭ‬
‫ﺭﻧﮓ ﺁﻣﻴﺰﻯ ‪ H&E51‬ﮔﺮﻓﺘﻪ ﻣﻰﺷﻮﺩ‪ .‬ﺑﺮﺍﻯ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ‬
‫ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ‪ ،‬ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥﻫﺎ‪ 16‬ﻭ ‪α-2‬ﻻﻣﻴﻨﻴﻦ‬
‫)ﻣﺮﻭﺯﻳﻦ(‪ 17‬ﻭ ﺳﺎﻳﺮ ﭘﺮﻭﺗﺌﻴﻦﻫﺎﻯ ﺳﺎﺧﺘﺎﺭﻯ ﻣﻰﺗﻮﺍﻧﺪ ﺍﻧﺠﺎﻡ ﺷﻮﺩ ﻛﻪ ﺍﻳﻦ‬
‫ﻧﺘﺎﻳﺞ ﺑﻪ ﻫﻤﺮﺍﻩ ﺗﺴﺖﻫﺎﻯ ﺑﻴﻮﺷﻴﻤﻴﺎﻳﻰ ﻭ ﺳﺎﻳﺮ ﻣﻮﺍﺭﺩ ﻣﻰﺗﻮﺍﻧﻨﺪ ﻣﻨﺠﺮ ﺑﻪ‬
‫ﺗﺸﺨﻴﺺ ﮔﺮﺩﻧﺪ )‪.(9‬‬
‫ﻫﺪﻑ ﺍﺯ ﺍﻧﺠﺎﻡ ﻣﻄﺎﻟﻌﻪ ﺣﺎﺿﺮ ﺗﺸﺨﻴﺺ ﺍﻓﺘﺮﺍﻗﻰ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ‬
‫ﺍﻧﻮﺍﻉ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺷﺎﻣﻞ ‪ BMD ،DMD‬ﻭ ‪LGMD‬‬
‫ﺑﻮﺩ‪ .‬ﺩﺭ ﻣﻮﺍﺭﺩ ﻣﺸﻜﻮﻙ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰ ﻣﻄﺎﻟﻌﻪ ﺭﻭﻯ ﺑﻴﻤﺎﺭﺍﻧﻰ ﺍﻧﺠﺎﻡ‬
‫ﮔﺮﻓﺖ ﻛﻪ ﺣﺬﻑ ﺩﺭ ﻧﺎﺣﻴﻪ ‪ Xp21‬ﺭﺍ ﻧﺸﺎﻥ ﻧﺪﺍﺩﻩ ﺑﻮﺩﻧﺪ ﻭ ﺑﺮﺭﺳﻰ ﺍﻳﻦ‬
‫ﻣﻮﺍﺭﺩ ﺩﺭ ﻛﻨﺎﺭﺑﺮﺭﺳﻰ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺑﺮﺍﻯ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ‬
‫‪ LGMD‬ﺑﻪ ﻣﻨﻈﻮﺭ ﺗﺸﺨﻴﺺ ﺍﻓﺘﺮﺍﻗﻰ ﻣﻮﺍﺭﺩ ﺧﻔﻴﻒ ﺍﺯ ﻟﺤﺎﻅ ﺑﺎﻟﻴﻨﻰ‬
‫ﺿﺮﻭﺭﻯ ﺑﻪ ﻧﻈﺮ ﻣﻰﺭﺳﻴﺪ‪.‬‬
‫ﺑﻴﻤﺎﺭﺍﻥ ﻭﺭﻭﺵﻫﺎ‪:‬‬
‫ﺑﻴﻤﺎﺭﺍﻧﻰ ﺩﺭ ﻣﻘﺎﻃﻊ ﺳﻨﻰ ﻣﺘﻔﺎﻭﺕ ﻛﻪ ﺩﺭ ﺳﺎﻟﻬﺎﻯ ‪ 1388-1384‬ﺑﻪ ﻣﺮﻛﺰ‬
‫ﺗﺤﻘﻴﻘﺎﺕ ژﻧﺘﻴﻚ ﺍﺭﺟﺎﻉ ﺷﺪﻩ ﻭﺍﺯ ﻟﺤﺎﻅ ﺑﺎﻟﻴﻨﻰ ﻣﺸﻜﻮﻙ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ‬
‫ﻋﻀﻼﻧﻰ ﺑﻮﺩﻧﺪ ﻭ ﻧﻴﺰ ﺍﻟﮕﻮﻯ ﻣﻴﻮﭘﺎﺗﻴﻚ‪ 18‬ﺍﻟﻜﺘﺮﻭﻣﻴﻮﮔﺮﺍﻓﻰ ﺩﺍﺷﺘﻪ ﻭﻣﻴﺰﺍﻥ‬
‫ﻓﻌﺎﻟﻴﺖ ‪ CK‬ﺩﺭ ﺁﻧﻬﺎ ﺑﺎﻻ ﺑﻮﺩ ﻣﻮﺭﺩ ﻣﻄﺎﻟﻌﻪ ﻗﺮﺍﺭﮔﺮﻓﺘﻨﺪ‪ .‬ﻻﺯﻡ ﺑﻪ ﺫﻛﺮ‬
‫ﺍﺳﺖ ﻛﻪ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰ ﺩﺭﺑﺮﺭﺳﻰﻫﺎﻯ ﻣﻮﻟﻜﻮﻟﻰ‪،‬‬
‫ﺣﺬﻓﻰ ﺭﺍ ﺩﺭﻧﺎﺣﻴﻪ ‪ Xp21‬ﻧﺸﺎﻥ ﻧﺪﺍﺩﻩ ﺑﻮﺩﻧﺪ‪.‬‬
‫‪ ‬ﺑﻴﻮﺷﻴﻤﻰ ﺧﻮﻥ‪،‬‬
‫ﺑﺮﺭﺳﻰ ﺁﻧﺰﻳﻢ ﻛﺮﺍﺗﻴﻦ ﻛﻴﻨﺎﺯ)‪:(CK‬‬
‫ﻣﻘﺎﺩﻳﺮ ‪ 50‬ﺗﺎ ‪ 100‬ﺑﺮﺍﺑﺮ ﻧﺮﻣﺎﻝ )‪ 15000‬ﺗﺎ ‪ 35000‬ﻭﺍﺣﺪ ﺩﺭ ﻟﻴﺘﺮ‬
‫ﺑﺎ ﺍﺣﺘﺴﺎﺏ ﻣﻘﺪﺍﺭ ﻧﺮﻣﺎﻝ‪ 60‬ﻭﺍﺣﺪ ﺩﺭ ﻟﻴﺘﺮ( ﺩﺭ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺆﻳﺪ ﺗﺨﺮﻳﺐ‬
‫ﻋﻀﻼﻧﻰ ﺑﻮﺩ‪.‬‬
‫‪ ‬ﺑﻴﻮﭘﺴﻰ ﻋﻀﻼﻧﻰ‪:‬‬
‫‪19‬‬
‫ﺑﻴﻮﭘﺴﻰ ﻋﻀﻠﻪ ﻃﺒﻖ ﺭﻭﺵ ﺍﺳﺘﺎﻧﺪﺍﺭﺩ ﺍﺯ ﻋﻀﻠﻪ ﺩﻟﺘﻮﺋﻴﺪ ﺑﻴﻤﺎﺭﺍﻥ‬
‫ﺑﺮﺩﺍﺷﺖ ﺷﺪ‪ .‬ﺑﺮﺩﺍﺷﺖ ﻋﻀﻠﻪ ﺩﺭ ﺍﻣﺘﺪﺍﺩ ﻣﺤﻮﺭ ﻃﻮﻟﻰ ﺁﻥ ﺑﻪ ﻃﻮﻝ‬
‫‪2464‬‬
‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪90‬‬
‫‪1-1/5‬ﺳﺎﻧﺘﻰﻣﺘﺮ ﻭ ﺣﺪﺍﻛﺜﺮ ﻗﻄﺮ ‪ 0/7‬ﺳﺎﻧﺘﻰﻣﺘﺮ ﺍﻧﺠﺎﻡ ﮔﺮﻓﺖ‪ .‬ﺩﺭﺿﻤﻦ‬
‫ﺟﻬﺖ ﻛﻨﺘﺮﻝ‪ ،‬ﻧﻤﻮﻧﻪﻫﺎﻯ ﻋﻀﻠﻪ ﻃﺒﻴﻌﻰ ﻧﻴﺰ ﺗﻮﺳﻂ ﻣﺘﺨﺼﺺ ﺍﺭﺗﻮﭘﺪﻯ‬
‫ﺑﺎ ﺍﺧﺬ ﺭﺿﺎﻳﺖ ﺍﺯ ﺑﻴﻤﺎﺭﺍﻥ ﻏﻴﺮ ﻣﻴﻮﭘﺎﺗﻴﻚ ﻣﺮﺑﻮﻃﻪ ﺩﺭ ﺑﻴﻤﺎﺭﺳﺘﺎﻥ‪ ،‬ﺣﻴﻦ‬
‫ﺟﺮﺍﺣﻰ ﺑﺮﺩﺍﺷﺖ ﻣﻰﺷﺪ‪.‬‬
‫‪ ‬ﺗﻘﺴﻴﻢ ﺑﺎﻓﺖ‪:‬‬
‫ﺑﺎﻓﺖ ﭘﺲ ﺍﺯ ﺍﻧﺘﻘﺎﻝ ﺑﻪ ﺁﺯﻣﺎﻳﺸﮕﺎﻩ ﺑﻪ ﻗﻄﻌﺎﺕ ﻣﻨﺎﺳﺐ )ﺩﺭ ﺍﻣﺘﺪﺍﺩ ﻣﺤﻮﺭ‬
‫ﻃﻮﻟﻰ( ﺗﻘﺴﻴﻢ ﻣﻲﺷﺪ‪ .‬ﻳﻚ ﻗﻄﻌﻪ ﺍﺯ ﺑﺎﻓﺖ ﺑﺎ ﺣﻔﻆ ﺟﻬﺖ ﺑﺎﻓﺘﻰ ﺩﺍﺧﻞ‬
‫ﻓﺮﻣﺎﻟﻴﻦ ‪ 10٪‬ﻗﺮﺍﺭ ﻣﻲﮔﺮﻓﺖ‪.‬‬
‫‪20‬‬
‫ﺑﺮﺍﻯ ﺑﺮﺭﺳﻰ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺍﺑﺘﺪﺍ ﻇﺮﻭﻑ ﺣﺎﻭﻯ ﺍﻳﺰﻭﭘﻨﺘﺎﻥ ﺩﺭ‬
‫ﻓﺮﻳﺰﺭ ‪ –80°C‬ﻗﺮﺍﺭ ﻣﻰﮔﺮﻓﺖ ﺍﻳﻦ ﻣﺎﻳﻊ ﺑﻌﻠﺖ ﻧﻘﻄﻪ ﺫﻭﺏ ﺑﺴﻴﺎﺭ‬
‫ﭘﺎﻳﻴﻦ )‪ −159/9°C‬ﻳﺎ ‪ (113/3 K‬ﺩﺭ ﺍﻳﻦ ﺩﻣﺎ ﻣﻨﺠﻤﺪ ﻧﻤﻰ ﺷﻮﺩ ﻭ‬
‫ﺑﺎﻓﺖ ﻋﻀﻠﻪ ﺑﺎ ﻗﺮﺍﺭ ﮔﺮﻓﺘﻦ ﺩﺭ ﺍﻳﺰﻭﭘﻨﺘﺎﻥ ﺑﺎ ﺩﻣﺎﻯ‪ –80°C‬ﺑﻪ ﺳﺮﻋﺖ‬
‫ﻣﻨﺠﻤﺪ ﻣﻰﺷﻮﺩ‪ .‬ﺍﻳﻦ ﻗﻄﻌﺎﺕ ﺑﺎ ﺣﻔﻆ ﺟﻬﺖ ﺑﺎﻓﺘﻰ ﭘﺲ ﺍﺯ ﻗﺮﺍﺭ ﮔﺮﻓﺘﻦ‬
‫ﺩﺭ ﺍﻳﺰﻭﭘﻨﺘﺎﻥ ﺳﺮﺩ ﺑﻪ ﻓﺮﻳﺰﺭ‪ -80ºC‬ﺍﻧﺘﻘﺎﻝ ﻣﻰﻳﺎﺑﻨﺪ‪.‬‬
‫‪ ‬ﺗﻬﻴﻪ ﻗﺎﻟﺐﻫﺎﻯ ﭘﺎﺭﺍﻓﻴﻨﻪ‪:12‬‬
‫ﺑﺮﺍﻯ ﺗﻬﻴﻪ ﻗﺎﻟﺐﻫﺎﻯ ﭘﺎﺭﺍﻓﻴﻨﻪ ﻭ ﺑﺮﺵﻫﺎﻯ ﻣﺮﺑﻮﻁ ﺑﻪ ﺁﻥ ﺟﻬﺖ ﺭﻧﮓ‬
‫ﺁﻣﻴﺰﻯ ﻫﻤﺎﺗﻮﻛﺴﻴﻠﻦ ﻭﺍﺋﻮﺯﻳﻦ )‪ (H&E‬ﻛﻠﻴﻪ ﺑﺎﻓﺖﻫﺎ ﺑﻪ ﻣﺪﺕ ‪24‬‬
‫ﺳﺎﻋﺖ ﺗﺤﺖ ﺗﺎﺛﻴﺮ ﻋﻤﻞ ﺁﻭﺭﻯ‪ 22‬ﺑﺎﻓﺘﻰ ﻗﺮﺍﺭﻣﻰ ﮔﺮﻓﺖ‪ .‬ﺩﺭ ﻃﻰ ﺍﻳﻦ‬
‫ﻣﺮﺣﻠﻪ ﺑﺎﻓﺖﻫﺎ ﺑﻪ ﺗﺮﺗﻴﺐ ﺍﺯ ﻣﺤﻠﻮﻟﻬﺎﻯ ﻓﺮﻣﺎﻟﻴﻦ ‪ 10٪‬ﺑﺮﺍﻯ ﺗﻜﻤﻴﻞ ﺛﺒﻮﺕ‬
‫ﺑﺎﻓﺘﻰ ﻭ ﺍﻟﻜﻞ ﺑﺎ ﺩﺭﺟﺎﺕ ﻣﺨﺘﻠﻒ )ﺍﺯ ﻏﻠﻴﻆ ﺑﻪ ﺭﻗﻴﻖ( ﺑﺮﺍﻯ ﺁﺏﮔﻴﺮﻯ‪،‬‬
‫ﮔﺰﻳﻠﻮﻝ‪ `23‬ﺑﺮﺍﻯ ﺷﻔﺎﻑ ﺷﺪﻥ ﺑﺎﻓﺖ ﻭ ﺩﺭ ﺁﺧﺮ ﺑﺮﺍﻯ ﺷﻤﻌﻰ ﺷﺪﻥ ﺍﺯ‬
‫ﭘﺎﺭﺍﻓﻴﻦ ﻋﺒﻮﺭ ﻛﺮﺩﻩ ﻭ ﺩﺭ ﻧﻬﺎﻳﺖ ﻗﺎﻟﺐﻫﺎﻯ ﭘﺎﺭﺍﻓﻴﻦ ﺟﺎﻣﺪ‪ ،‬ﻗﺎﻟﺐﮔﻴﺮﻯ‬
‫ﻣﻲﺷﺪﻧﺪ‪.‬‬
‫‪ ‬ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ‪:‬‬
‫ﺑﺮﺍﻯ ﺑﺎﻓﺖﻫﺎﻯ ﻳﺦ ﺯﺩﻩ ﻛﻪ ﺩﺭ ‪ -80ºC‬ﻧﮕﻬﺪﺍﺭﻯ ﻣﻰﺷﺪﻧﺪ ﺑﺎ ﺍﺳﺘﻔﺎﺩﻩ‬
‫ﺍﺯ ﺭﻭﺵﻫﺎﻯ ﺍﺳﺘﺎﻧﺪﺍﺭﺩ ﭘﺲ ﺍﺯ ﺍﻧﺠﺎﻡ ﺑﺮﺵ ﺑﺎﻓﺘﻰ ﺑﻪ ﻭﺳﻴﻠﻪ ﺩﺳﺘﮕﺎﻩ‬
‫ﻛﺮﺍﻳﻮﺗﻮﻡ ‪ Leica CM 1850‬ﻭ ﺗﻮﺳﻂ ﻛﻴﺖﻫﺎﻯ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ‪،1،2،3‬‬
‫‪Biopsy‬‬
‫)‪Immunohistochemistry(IHC‬‬
‫‪Hematoxilin & Eosin‬‬
‫‪Sarcoglycans‬‬
‫)‪α-2 Laminin (merosin‬‬
‫‪Myopathic‬‬
‫‪Deltoid‬‬
‫‪Isopanthene‬‬
‫‪Paraffin blocks‬‬
‫‪Processing‬‬
‫‪Xylen‬‬
‫‪13.‬‬
‫‪14.‬‬
‫‪15.‬‬
‫‪16.‬‬
‫‪17.‬‬
‫‪18.‬‬
‫‪19.‬‬
‫‪20.‬‬
‫‪21.‬‬
‫‪22.‬‬
‫‪23.‬‬
‫ﺍﻟﻬﺎﻡ ﺩﺍﺭﺍﺑﻰ‪ ،‬ﻛﻴﻤﻴﺎ ﻛﻬﺮﻳﺰﻯ‪ ،‬ﻓﺎﻃﻤﻪ ﺁﻗﺎﺧﺎﻧﻲ ﻣﻘﺪﻡ ﻭ ﻫﻤﻜﺎﺭﺍﻥ‬
‫ﺷﻜﻞ‪ :1‬ﺭﻧﮓ ﺁﻣﻴﺰﻯ ﻫﻤﺎﺗﻮﻛﺴﻴﻠﻴﻦ ﻭ ﺍﺋﻮﺯﻳﻦ“‪ a،‬ﻧﻤﻮﻧﻪ ﻧﺮﻣﺎﻝ‪ b،‬ﻧﻤﻮﻧﻪ ﺑﻴﻤﺎﺭ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ‪.‬‬
‫‪ - γ،β،α‬ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥ‪ ،‬ﺩﻳﺴﻔﺮﻟﻴﻦ ‪ ،24‬ﻣﺮﻭﺯﻳﻦ ﻭ ﺍﺳﭙﻜﺘﺮﻳﻦ ‪) 25‬ﺟﻬﺖ‬
‫ﻛﻨﺘﺮﻝ ﺳﻼﻣﺖ ﻏﺸﺎ( ﺳﺎﺧﺖ ﻛﺎﺭﺧﺎﻧﻪ ‪ Novocastra‬ﺍﻧﮕﻠﺴﺘﺎﻥ‬
‫ﺍﻧﺠﺎﻡ ﮔﺮﻓﺖ‪.‬‬
‫ﻳﺎﻓﺘﻪﻫﺎ‪:‬‬
‫‪‬ﺑﺮﺵﻫﺎﻯ ﺗﻬﻴﻪ ﺷﺪﻩ ﺍﺯ ﻗﺎﻟﺐﻫﺎﻯ ﭘﺎﺭﺍﻓﻴﻨﻪ ﻛﻪ ﺑﻪ ﺭﻭﺵ‬
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‫‪ H&E‬ﺭﻧﮓ ﺷﺪﻩ ﺑﻮﺩﻧﺪ‪ ،‬ﻣﻮﺭﺩ ﻣﻄﺎﻟﻌﻪ ﻗﺮﺍﺭ ﮔﺮﻓﺘﻨﺪ‪.‬ﺑﺎ ﺗﻔﺎﻭﺗﻬﺎﻯ‬
‫ﺍﻧﺪﻙ ﺑﻴﻦ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺮﺭﺳﻰ ﺷﺪﻩ ﺩﺭ ﻛﻠﻴﻪ ﺑﻴﻤﺎﺭﺍﻥ ﺗﻐﻴﻴﺮﺍﺕ ﺑﻪ ﺷﺮﺡ‬
‫ﺯﻳﺮ ﻣﺸﺎﻫﺪﻩ ﺷﺪ‪:‬‬
‫‪29‬‬
‫‪28‬‬
‫‪27‬‬
‫ﻧﻜﺮﻭﺯ‪ ،26‬ﺭژﻧﺮﺍﺳﻴﻮﻥ ﻓﻴﺒﺮﻫﺎ ‪ ،‬ﻫﻴﭙﺮﺗﺮﻭﻓﻰ ‪ ،‬ﻫﺴﺘﻪﻫﺎﻯ ﺩﺍﺧﻠﻰ ‪ ،‬ﻗﻄﻌﻪ‬
‫ﻗﻄﻌﻪ ﺷﺪﻥ ﻓﻴﺒﺮﻫﺎ‪ ،30‬ﺣﻀﻮﺭ ﻓﻴﺒﺮﻫﺎﻯ ﺯﺍﻭﻳﻪ ﺩﺍﺭ ﻭﺁﺗﺮﻭﻓﻴﻚ ﮔﺮﺩ‪ ،‬ﺗﺠﻤﻊ‬
‫ﻫﺴﺘﻪﻫﺎﻯ ﺑﻴﺮﻭﻥ ﺭﻳﺨﺘﻪ ﺑﻌﻠﺖ ﺗﺨﺮﻳﺐ ﻓﻴﺒﺮﻫﺎ ﻭﺟﻮﺩ ﻧﻮﺍﺣﻰ ﺧﺎﻟﻰ ﺍﺯ‬
‫ﻓﻴﺒﺮ)ﻧﻮﺍﺣﻰ ﺳﻔﻴﺪ ﺭﻧﮓ(‪ ،‬ﺗﺠﻤﻌﺎﺕ ﻧﺎﻣﻨﻈﻢ ﻓﻴﺒﺮﻯ ﻭ ﻭﺟﻮﺩ ﻓﻴﺒﺮﻫﺎﻯ‬
‫ﻛﻮﭼﻚ ﻭ ﺑﺰﺭگ )ﺍﻧﺪﺍﺯﻩﻫﺎﻯ ﻏﻴﺮ ﻳﻜﻨﻮﺍﺧﺖ( ﻛﻪ ﺗﻐﻴﻴﺮﺍﺕ ﻓﻮﻕ ﺑﻪ ﻧﻔﻊ‬
‫ﺿﺎﻳﻌﻪ ﻣﻴﻮﭘﺎﺗﻴﻚ ﻣﻲﺑﺎﺷﻨﺪ‪) .‬ﺷﻜﻞ‪(1‬‬
‫‪‬ﺩﺭ ﺑﻴﻤﺎﺭﺍﻧﻲ ﻛﻪ ﺑﻌﺪ ﺍﺯﺑﺮﺭﺳﻲﻫﺎﻱ ﺑﺎﻓﺘﻲ ﻭ ‪ IHC‬ﺑﺎ ﺗﺸﺨﻴﺺ‬
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‫ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻲ‪ 31‬ﻃﺒﻘﻪ ﺑﻨﺪﻱ ﺷﺪﻧﺪ‪:‬‬
‫ﻗﻄﻌﺎﺕ ﻓﺮﻳﺰ ﺷﺪﻩ ﺑﺎ ﺣﻔﻆ ﺟﻬﺖ ﺑﺎﻓﺘﻰ ﺑﺮﺵﻫﺎﻯ ﺭﻧﮓ ﺁﻣﻴﺰﻯ ﺷﺪﻩ ﻧﻴﺰ‬
‫ﺑﻪ ﻫﻤﺮﺍﻩ ﻛﻨﺘﺮﻝﻫﺎﻯ ﻣﺜﺒﺖ ﻭ ﻣﻨﻔﻰ ﻣﻄﺎﻟﻌﻪ ﺷﺪﻧﺪ‪ .‬ﻛﻨﺘﺮﻝﻫﺎﻯ ﻣﺜﺒﺖ‬
‫ﻛﻪ ﻧﻮﺍﺭ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺭﺍ ﺑﻪ ﻃﻮﺭ ﻛﺎﻣﻞ ﺩﺭ ﺍﻃﺮﺍﻑ ﻓﻴﺒﺮﻫﺎﻯ ﻋﻀﻠﻪ ﺑﻪ‬
‫ﻧﻤﺎﻳﺶ ﮔﺬﺍﺷﺘﻨﺪ ﻭ ﻛﻨﺘﺮﻝﻫﺎﻯ ﻣﻨﻔﻰ ﻛﻪ ﻣﺮﺑﻮﻁ ﺑﻪ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺎ ﺗﺸﺨﻴﺺ‬
‫ﻗﻄﻌﻰ ‪ DMD‬ﺑﻮﺩ‪ ،‬ﻓﻘﺪﺍﻥ ﻛﺎﻣﻞ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺭﺍ ﻧﺸﺎﻥ ﺩﺍﺩﻧﺪ‪ .‬ﺿﻤﻨ ًﺎ‬
‫ﺁﻧﺘﻰ ﺑﺎﺩﻯ ﺍﺳﭙﻜﺘﺮﻳﻦ ﻫﻤﺰﻣﺎﻥ ﺑﺮ ﺭﻭﻯ ﺑﺮﺵﻫﺎﻯ ﺑﺎﻓﺘﻰ ﺑﻴﻤﺎﺭﺍﻥ ﺑﻪ‬
‫ﻛﺎﺭ ﺑﺮﺩﻩ ﺷﺪ ﻛﻪ ﺑﻪ ﺩﻟﻴﻞ ﺷﺒﺎﻫﺖ ﺑﺴﻴﺎﺭ ﺯﻳﺎﺩ ﺍﻳﻦ ﻣﻮﻟﻜﻮﻝ ﭘﺮﻭﺗﺌﻴﻨﻰ‬
‫ﺑﺎ ﻣﻮﻟﻜﻮﻝ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺟﻬﺖ ﺍﻃﻤﻴﻨﺎﻥ ﺍﺯ ﺳﻼﻣﺖ ﻣﻜﺎﻧﻴﻜﻰ ﻏﺸﺎء ﺩﺭ‬
‫ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰﻫﺎ ﻛﻨﺘﺮﻝ ﻣﻨﺎﺳﺒﻰ ﺍﺳﺖ‪ .‬ﺩﺭ ﻣﻄﺎﻟﻌﻪ ﻻﻣﻬﺎﻯ ﺭﻧﮓ ﺷﺪﻩ‬
‫ﺑﺎ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ )‪ (3 ،2 ،1‬ﺩﺭ ‪ 6‬ﺑﻴﻤﺎﺭ ﻋﺪﻡ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﺟﺪﺍﺭ ﻓﻴﺒﺮﻫﺎ‪ ،‬ﺩﺭ‬
‫‪ 18‬ﺑﻴﻤﺎﺭ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﺟﺪﺍﺭ ﻓﻴﺒﺮﻫﺎ ﺑﻪ ﺻﻮﺭﺗﻬﺎﻯ ‪ ،On & Off‬ﻧﺎﺯﻙ‬
‫ﻭ ﺿﺨﻴﻢ ﻭ ﻧﺎﻫﻤﮕﻦ ﻭ ﺩﺭ ﺳﺎﻳﺮ ﻣﻮﺍﺭﺩ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﻛﺎﻣﻞ ﺑﻮﺩ‪) .‬ﺷﻜﻞ ‪(2‬‬
‫‪‬ﺩﺭ ﺑﺮﺭﺳﻰ ﻻﻡﻫﺎﻯ ﺭﻧﮓ ﺷﺪﻩ ﺑﺎ ﺁﻧﺘﻰ ﺑﺎﺩﻯﻫﺎﻯ ‪-γ،β،α‬‬
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‫ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥ‪ ،‬ﻣﺮﻭﺯﻳﻦ ﻭﺩﻳﺴﻔﺮﻟﻴﻦ‪ 11 ،‬ﺑﻴﻤﺎﺭ ﻋﺪﻡ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﻳﺎ ﺭﻧﮓ‬
‫ﭘﺬﻳﺮﻯ ﺿﻌﻴﻒ ﻏﺸﺎ ﺑﺎ ﺁﻧﺘﻰ ﺑﺎﺩﻯ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥ‪ 6 ،‬ﺑﻴﻤﺎﺭ ﻋﺪﻡ ﺭﻧﮓ‬
‫ﭘﺬﻳﺮﻯ ﺑﺎ ﺁﻧﺘﻰ ﺑﺎﺩﻯ ﻣﺮﻭﺯﻳﻦ ﻭ ‪ 3‬ﺑﻴﻤﺎﺭ ﻋﺪﻡ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﺑﺎ ﺁﻧﺘﻰ ﺑﺎﺩﻯ‬
‫ﺩﻳﺴﻔﺮﻟﻴﻦ ﺭﺍ ﻧﺸﺎﻥ ﺩﺍﺩﻧﺪ ﻭ ﺩﺭ ﺳﺎﻳﺮ ﺑﻴﻤﺎﺭﺍﻥ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﻛﺎﻣﻞ ﺑﻮﺩ‪.‬‬
‫)ﺷﻜﻞ ‪ (3‬ﺑﻴﻤﺎﺭﺍﻥ ﻓﻮﻕ ﺑﻪ ﺗﺮﺗﻴﺐ ﺗﺤﺖ ﻋﻨﻮﺍﻥ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻧﻮﭘﺎﺗﻲ‪،32‬‬
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‫ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻣﺎﺩﺭﺯﺍﺩﻯ ﺑﺎ ﻓﻘﺪﺍﻥ ﻣﺮﻭﺯﻳﻦ ﻭ ﺩﻳﺴﻔﺮﻟﻴﻨﻮﭘﺎﺗﻲ‬
‫ﻃﺒﻘﻪ ﺑﻨﺪﻱ ﺷﺪﻧﺪ‪.‬‬
‫ﺑﺤﺚ‪:‬‬
‫ﺑﺎﺗﻮﺟﻪ ﺑﻪ ﻃﻴﻒ ﻭﺳﻴﻊ ﺑﻴﻤﺎﺭﻯﻫﺎﻯ ژﻧﺘﻴﻜﻰ ﺩﺭﮔﻴﺮ ﻛﻨﻨﺪﻩ ﻋﻀﻼﺕ ﻭ‬
‫ﺗﺤﻘﻴﻘﺎﺕ ﮔﺴﺘﺮﺩﻩ ﺍﻯ ﻛﻪ ﺩﺭﺳﺮﺍﺳﺮ ﺟﻬﺎﻥ ﺑﺨﺼﻮﺹ ﺩﺭ ﺯﻣﻴﻨﻪ ﺩﺭﻣﺎﻥ‬
‫ﺍﻳﻦ ﺑﻴﻤﺎﺭﻯﻫﺎ ﺍﻧﺠﺎﻡ ﻣﻰﺷﻮﺩ ﺑﺮﺭﺳﻰ ﻭ ﺗﺤﻘﻴﻖ ﺭﻭﻯ ﺯﻳﺮ ﮔﺮﻭﻩﻫﺎﻱ‬
‫ﻣﺨﺘﻠﻒ ﺍﻳﻦ ﺑﻴﻤﺎﺭﻯﻫﺎ ﺑﺨﺼﻮﺹ ﺩﺭ ﻛﺸﻮﺭ ﻣﺎ ﻛﻪ ﻫﻨﻮﺯ ﺣﺘﻰ ﺩﺭ‬
‫‪24. Dysferlin‬‬
‫‪25. Spectrin‬‬
‫‪26. Necrosis‬‬
‫‪27. Fiber regeneration‬‬
‫‪28. Hypertrophy‬‬
‫‪29. Internalized nuclei‬‬
‫‪30. Fiber splitting‬‬
‫‪31. Dystrophinopathy‬‬
‫‪32. Sarcoglycanopathy‬‬
‫‪33. Dysferlinopathy‬‬
‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪2465 90‬‬
‫ﺍﺭﺯﻳﺎﺑﻰ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺩﺭ ﺳﻄﺢ ﭘﺮﻭﺗﺌﻴﻦ‬
‫ﺷﻜﻞ‪ :2‬ﺍﻳﻤﻮﻧﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ“‪ a ،‬ﻧﻤﻮﻧﻪ ﻧﺮﻣﺎﻝ‪ b ،‬ﻧﻤﻮﻧﻪ ﺑﻴﻤﺎﺭ ‪ DMD، c‬ﻧﻤﻮﻧﻪ ﺑﻴﻤﺎﺭ ‪.BMD‬‬
‫ﺷﻜﻞ‪ :3‬ﺍﻳﻤﻮﻧﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﻣﺮﻭﺯﻳﻦ‪ ،‬ﺩﻳﺴﻔﺮﻟﻴﻦ ﻭﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥ“‪ a ،‬ﻓﻘﺪﺍﻥ ﻣﺮﻭﺯﻳﻦ ﺩﺭ ﺑﻴﻤﺎﺭ ﻣﺒﺘﻼ ﺑﻪ ‪ CMD،b‬ﻓﻘﺪﺍﻥ ﺩﻳﺴﻔﺮﻟﻴﻦ ﻭ ‪c‬‬
‫ﻓﻘﺪﺍﻥ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥ ﺩﺭ ﺑﻴﻤﺎﺭﺍﻥ ‪LGMD‬‬
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‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪90‬‬
‫ﺍﻟﻬﺎﻡ ﺩﺍﺭﺍﺑﻰ‪ ،‬ﻛﻴﻤﻴﺎ ﻛﻬﺮﻳﺰﻯ‪ ،‬ﻓﺎﻃﻤﻪ ﺁﻗﺎﺧﺎﻧﻲ ﻣﻘﺪﻡ ﻭ ﻫﻤﻜﺎﺭﺍﻥ‬
‫ﺯﻣﻴﻨﻪ ﺗﺸﺨﻴﺺ ﻧﻴﺰ ﻣﺸﻜﻼﺕ ﻋﺪﻳﺪﻩ ﺍﻱ ﻭﺟﻮﺩ ﺩﺍﺭﺩ ﺿﺮﻭﺭﻱ ﺑﻪ ﻧﻈﺮ‬
‫ﻣﻲﺭﺳﻴﺪ‪ .‬ﻳﺎﻓﺘﻪﻫﺎﻱ ﺭﻧﮓ ﺁﻣﻴﺰﻱ ‪ H&E‬ﺟﻬﺖ ﺗﺸﺨﻴﺺ ﻗﻄﻌﻲ ﻭ‬
‫ﺍﻓﺘﺮﺍﻕ ﺍﻳﻦ ﺯﻳﺮ ﮔﺮﻭﻩﻫﺎ ﻛﻔﺎﻳﺖ ﻻﺯﻡ ﺭﺍ ﻧﺪﺍﺷﺖ ﻟﺬﺍ ﺍﺯ ﺍﻭﺍﻳﻞ ﺗﺎﺑﺴﺘﺎﻥ‬
‫‪ 1384‬ﺍﻭﻟﻴﻦ ﮔﺎﻡﻫﺎ ﺩﺭ ﻣﺮﻛﺰ ﺗﺤﻘﻴﻘﺎﺕ ژﻧﺘﻴﻚ ﺑﺮﺍﻱ ﺭﺍﻩ ﺍﻧﺪﺍﺯﻱ ﺗﻜﻨﻴﻚ‬
‫ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻲ ﺟﻬﺖ ﻣﻄﺎﻟﻌﻪ ﺑﺎﻓﺖ ﻋﻀﻠﻪ ﺑﺮﺩﺍﺷﺘﻪ ﺷﺪ‪.‬‬
‫ﺑﻪ ﺩﻟﻴﻞ ﺷﻴﻮﻉ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺑﻮﻳﮋﻩ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮ ﭘﺎﺗﻰﻫﺎ ﺍﻳﻦ‬
‫ﻣﻄﺎﻟﻌﻪ ﺭﻭﻯ ﺑﻴﻤﺎﺭﺍﻧﻰ ﺍﻧﺠﺎﻡ ﮔﺮﻓﺖ ﻛﻪ ﺍﺯ ﻟﺤﺎﻅ ﺑﺎﻟﻴﻨﻰ ﻭ ﺁﺯﻣﺎﻳﺶﻫﺎﻱ‬
‫ﭘﺎﺭﺍﻛﻠﻴﻨﻴﻚ ﺍﺯ ﺟﻤﻠﻪ ‪ CK‬ﻭ ‪ EMG‬ﻣﺸﻜﻮﻙ ﺑﻪ ﺍﻧﻮﺍﻉ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻱ‬
‫ﻋﻀﻼﻧﻰ ﺑﻮﺩﻧﺪ ﻭ ﺩﺭﺍﻳﻦ ﻣﻴﺎﻥ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰ‬
‫ﺑﺪﻭﻥ ﺟﻬﺶ ﺗﺸﺨﻴﺺ ﺩﺍﺩﻩ ﺷﺪﻩ ﺩﺭ ژﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﻭﺟﻮﺩ ﺩﺍﺷﺘﻨﺪ‪.‬‬
‫ﺑﺎ ﺗﻮﺟﻪ ﺑﻪ ﺑﺰﺭﮔﻰ ژﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﻭ ﺑﺎﻻ ﺑﻮﺩﻥ ﺍﺣﺘﻤﺎﻝ ﺟﻬﺶ ﻭ‬
‫ﻋﺪﻡ ﺗﺸﺨﻴﺺ ﺁﻥ ﺑﺎ ﺭﻭﺵﻫﺎﻯ ﻣﻮﻟﻜﻮﻟﻰ ﻣﺮﺳﻮﻡ‪ ،‬ﺩﺭ ﺩﺳﺘﺮﺱ ﺗﺮﻳﻦ‬
‫ﻭﻧﺰﺩﻳﻚ ﺗﺮﻳﻦ ﺭﺍﻩ ﺑﺮﺭﺳﻰ ﺑﻴﻤﺎﺭﻯ ﺑﺮﺭﺳﻰ ﻓﻨﻮﺗﻴﭗ ﻣﻮﻟﻜﻮﻟﻲ ﺑﻴﻤﺎﺭﻯ‬
‫ﻳﻌﻨﻰ ﺑﺮﺭﺳﻰ ﭘﺮﻭﺗﺌﻴﻦ ﺩﺭ ﺳﻄﺢ ﺑﺎﻓﺖ )ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ( ﺑﻮﺩ‪ .‬ﻛﺎﺭﺑﺮﺩ‬
‫ﺁﻧﺘﻰ ﺑﺎﺩﻯ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﻭ ﺩﺭ ﻛﻨﺎﺭ ﺁﻥ ﺁﻧﺘﻰ ﺑﺎﺩﻯﻫﺎﻯ ﺩﻳﺴﻔﺮﻟﻴﻦ‪،‬‬
‫ﻣﺮﻭﺯﻳﻦ ﻭ ﺍﻧﻮﺍﻉ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥﻫﺎ ﻋﻼﻭﻩ ﺑﺮ ﺣﺴﺎﺳﻴﺖ ﻭ ﻭﻳﮋﮔﻰ ﺑﺎﻻ‬
‫ﺑﺮﺍﻯ ﺗﺸﺨﻴﺺ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﻣﻮﺟﺐ ﺍﻓﺘﺮﺍﻕ ﺁﻧﺎﻥ ﺍﺯ ﻳﻜﺪﻳﮕﺮ ﻭﺳﺎﻳﺮ‬
‫ﺍﻧﻮﺍﻉ ﺩﻳﺴﺘﺮﻭﻓﻰﻫﺎﻱ ﻋﻀﻼﻧﻰ ﻣﻰﺷﺪ‪.‬ﺩﺭ ﻣﻄﺎﻟﻌﻪ ﻣﺸﺎﺑﻬﻰ ﻛﻪ ﺑﺮ‬
‫ﺭﻭﻯ ‪ 106‬ﺑﻴﻤﺎﺭ ﻣﺸﻜﻮﻙ ﺑﻪ ‪ DMD/BMD‬ﺑﺎ ﺑﺮﺭﺳﻰ ‪ 20‬ﺍﮔﺰﻭﻥ‬
‫ژﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﻭ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺍﻧﺠﺎﻡ ﮔﺮﻓﺖ ﺣﺬﻑ ﺩﺭ ‪٪81‬‬
‫ﺍﻓﺮﺍﺩ ‪ DMD‬ﻭﺗﻤﺎﻡ ‪BMD‬ﻫﺎ ﺷﻨﺎﺳﺎﻳﻰ ﺷﺪ ﻭ ﺍﻓﺮﺍﺩﻯ ﻛﻪ ﺣﺬﻑ ﺩﺭ‬
‫ﺁﻥﻫﺎ ﺗﺸﺨﻴﺺ ﺩﺍﺩﻩ ﻧﺸﺪ ﻣﻮﺭﺩ ﺑﻴﻮﭘﺴﻰ ﻗﺮﺍﺭ ﮔﺮﻓﺘﻨﺪ‪ .‬ﺩﺭ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ‬
‫ﺑﺎ ﺭﻭﺵ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﻋﻼﻭﻩ ﺑﺮ ‪ DMD‬ﻣﻮﻓﻖ ﺑﻪ ﺷﻨﺎﺳﺎﻳﻰ‬
‫ﻣﻴﻮﭘﺎﺗﻰ ﻣﺎﺩﺭﺯﺍﺩﻯ ‪ 34‬ﻭ‪ LGMD‬ﻧﻴﺰﺷﺪﻧﺪ‪ .‬ﺩﺭﺍﻳﻦ ﻣﻄﺎﻟﻌﻪ ﻧﻴﺰ‬
‫ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﻫﻤﭽﻨﺎﻥ ﺑﻪ ﻋﻨﻮﺍﻥ ﺍﺧﺘﺼﺎﺻﻰ ﺗﺮﻳﻦ ﺭﻭﺵ ﺑﺮﺍﻯ‬
‫ﺗﺸﺨﻴﺺ ‪ BMD‬ﻭ ‪ DMD‬ﺫﻛﺮ ﺷﺪﻩ ﻭﺩﺭ ﻣﻮﺍﺭﺩ ﻋﺪﻡ ﺷﻨﺎﺳﺎﻳﻰ‬
‫ﺟﻬﺶ ﻣﻮﺭﺩ ﺍﺳﺘﻔﺎﺩﻩ ﻗﺮﺍﺭﮔﺮﻓﺘﻪ ﺍﺳﺖ )‪.(10‬‬
‫ﺑﻌﻼﻭﻩ ﺑﻪ ﻣﻨﻈﻮﺭ ﺑﺮﺭﺳﻰ ﻛﻞ ﭘﺮﻭﺗﺌﻴﻦ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﻻﺯﻡ ﺑﻮﺩ ﻛﻪ ﺁﻧﺘﻰ‬
‫ﺑﺎﺩﻯ ﺑﺮ ﻋﻠﻴﻪ ﺳﻪ ﺑﺨﺶ ﺁﻥ ﻳﻌﻨﻰ ﺍﻧﺘﻬﺎﻯ ﻛﺮﺑﻮﻛﺴﻴﻠﻰ‪ ،‬ﺍﻧﺘﻬﺎﻯ ﺁﻣﻴﻨﻰ‬
‫ﻭ ﺑﺨﺶ ﻣﻴﻠﻪ ﺍﻯ‪ 35‬ﺑﻪ ﻛﺎﺭ ﺭﻭﺩ ‪.‬‬
‫ﭼﻮﻥ ﺩﺭ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﺑﻪ ﻫﻨﮕﺎﻡ ﺑﻴﻮﭘﺴﻰ ﻣﻤﻜﻦ ﺍﺳﺖ ﺑﻪ ﻏﺸﺎﻯ ﺳﻠﻮﻟﻬﺎ‬
‫ﺁﺳﻴﺐ ﻭﺍﺭﺩ ﺷﻮﺩ ﺑﻪ ﻣﻨﻈﻮﺭ ﺑﺮﺭﺳﻰ ﺣﻔﻆ ﺗﻤﺎﻣﻴﺖ ﻏﺸﺎ ﻭﺍﻃﻤﻴﻨﺎﻥ ﺍﺯ ﺍﻳﻦ‬
‫ﻛﻪ ﻋﺪﻡ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﻏﺸﺎ ﻳﻚ ﻧﺘﻴﺠﻪ ﻣﻨﻔﻰ ﻛﺎﺫﺏ )ﺩﺭ ﺍﺛﺮ ﺗﺨﺮﻳﺐ‬
‫ﻏﺸﺎ( ﻧﺒﻮﺩﻩ ﺍﺳﺖ ﺩﺭ ﻣﻮﺭﺩ ﻫﺮ ﺑﻴﻤﺎﺭ ﻋﻼﻭﻩ ﺑﺮ ﺍﻧﺠﺎﻡ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ‬
‫ﺑﺮﺍﻯ ﺑﺨﺶﻫﺎﻯ ﻣﺨﺘﻠﻒ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ‪ ،‬ﺁﻧﺘﻰ ﺑﺎﺩﻯ ﺩﻳﮕﺮﻯ )ﺭﻭﻯ ﻧﻤﻮﻧﻪ‬
‫ﺩﻳﮕﺮﻯ ﺍﺯ ﻫﻤﺎﻥ ﺑﻴﻤﺎﺭ( ﻋﻠﻴﻪ ﺍﺳﭙﻜﺘﺮﻳﻦ )ﭘﺮﻭﺗﺌﻴﻨﻰ ﻛﻪ ﺍﺯﻧﻈﺮ ﺳﺎﺧﺘﺎﺭﻯ‬
‫ﺷﺒﺎﻫﺖ ﺯﻳﺎﺩﻯ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺩﺍﺭﺩ( ﻧﻴﺰ ﺑﻪ ﻛﺎﺭ ﺑﺮﺩﻩ ﺷﺪ‪ .‬ﺑﺎ ﺍﻳﻦ ﺭﻭﺵ‬
‫ﺳﻼﻣﺖ ﻏﺸﺎﻯ ﻋﻀﻠﻪ ﺑﺎ ﻭﺟﻮﺩ ﻭﺍﻛﻨﺶ ﻣﺜﺒﺖ ﺍﺳﭙﻜﺘﺮﻳﻦ ﺗﺎﺋﻴﺪ ﺷﺪ‪.‬‬
‫ﺭﻭﻳﺖ ﺍﻟﮕﻮﻯ ‪ on/off‬ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺩﺭ ﻋﻀﻠﻪ ﺑﻴﻤﺎﺭﺍﻥ‬
‫ﺑﺎ ﻓﻨﻮﺗﻴﭗ ﺧﻔﻴﻒ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﻣﻰﺗﻮﺍﻧﺪ ﺩﺭ ﺍﻓﺘﺮﺍﻕ ﺑﻴﻦ‬
‫‪LGMD‬ﻫﺎ ﻭ ‪ BMD‬ﻛﻪ ﺍﺯ ﻧﻈﺮ ﻋﻼﺋﻢ ﺑﺎﻟﻴﻨﻰ ﻧﻴﺰ ﺗﺸﺎﺑﻪ ﺩﺍﺭﻧﺪ ﺍﻳﺠﺎﺩ‬
‫ﻣﺸﻜﻞ ﻛﻨﺪ ﻛﻪ ﺍﻳﻦ ﻣﺸﻜﻞ ﺑﺎ ﺑﺮﺭﺳﻰ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥﻫﺎﻯ‪ γ ،β ،α‬ﻭ‬
‫ﺩﻳﺴﻔﺮﻟﻴﻦ ﺗﺎ ﺣﺪ ﺯﻳﺎﺩﻯ ﺑﺮﻃﺮﻑ ﻣﻰﺷﻮﺩ‪ .‬ﺗﻮﺻﻴﻪ ﺑﻪ ﻫﻤﺰﻣﺎﻧﻰ ﺗﺸﺨﻴﺺ‬
‫ﺍﻓﺘﺮﺍﻗﻰ ‪ DMD/ BMD‬ﺍﺯ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻧﻮﭘﺎﺗﻰﻫﺎ ﻭﺍﺳﺘﻔﺎﺩﻩ ﺍﺯ ﺗﻤﺎﻡ‬
‫ﺍﻧﻮﺍﻉ ﺁﻧﺘﻰ ﺑﺎﺩﻯﻫﺎﻯ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥ ﺑﻪ ﺩﻟﻴﻞ ﻛﺎﻫﺶ ﻳﺎ ﻓﻘﺪﺍﻥ ﺑﻴﺎﻥ‬
‫ﻳﻜﻰ ﺍﺯ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻥﻫﺎ ﻭ ﻧﻴﺰﺑﻪ ﺩﻟﻴﻞ ﻛﺎﻫﺶ ﻫﻤﺰﻣﺎﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺩﺭ‬
‫ﺑﻴﻤﺎﺭﺍﻥ ‪ LGMD‬ﺩﺭ ﻣﻄﺎﻟﻌﻪ ﺍﻯ ﻛﻪ ﺍﺧﻴﺮﺍً ﺭﻭﻯ ‪ 24‬ﺑﻴﻤﺎﺭ‪LGMD‬‬
‫ﺩﺭ ﺍﻧﮕﻠﺴﺘﺎﻥ ﺍﻧﺠﺎﻡ ﺷﺪﻩ ﺑﻮﺩ ﻧﻴﺰ ﺍﻳﻦ ﻣﻄﻠﺐ ﺭﺍ ﺗﺎﺋﻴﺪ ﻣﻰﻛﻨﺪ )‪.(11‬‬
‫ﺑﻪ ﻋﻼﻭﻩ ﺍﻟﮕﻮﻯ ‪ on/off‬ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺩﺭ ﺑﻴﻤﺎﺭﺍﻥ ﺑﻜﺮ ﺑﻪ ﺗﻨﻬﺎﻳﻰ ﺑﺎﻋﺚ‬
‫ﻗﻄﻌﻴﺖ ﺗﺸﺨﻴﺺ ﺁﻧﺎﻥ ﻧﻤﻲ ﺷﻮﺩ ﻭ ﺑﺎﻳﺪ ﺑﺎ ﺷﻮﺍﻫﺪ ﺩﻳﮕﺮﻯ ﺍﺯ ﺟﻤﻠﻪ‬
‫ﺑﺮﺭﺳﻲ ﻭﺳﺘﺮﻥ ﺑﻼﺕ ‪ 36‬ﺗﺎﺋﻴﺪ ﮔﺮﺩﺩ‪ .‬ﺍﺳﺘﻔﺎﺩﻩ ﺍﺯ ﺭﻭﺵ ﺭﻧﮓ ﺁﻣﻴﺰﻯ‬
‫ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺑﺮﺍﻯ ﭘﺮﻭﺗﺌﻴﻦ ﻳﻮﺗﺮﻭﻓﻴﻦ‪ 37‬ﺑﻪ ﻋﻨﻮﺍﻥ ﺟﺎﻳﮕﺰﻳﻦ‬
‫ﺭﻭﺵﻫﺎﻯ ﺑﺮﺭﺳﻰ ﭘﺮﻭﺗﺌﻴﻦ ﻳﺎ ﺭﻭﺵ ﻫﻤﺮﺍﻩ ﺩﺭ ﺑﺴﺘﻪ ﺗﺸﺨﻴﺼﻰ ﺑﻴﻤﺎﺭﺍﻥ‬
‫ﻣﺸﻜﻮﻙ ﺑﻪ ‪ BMD‬ﺩﺭ ﻣﻄﺎﻟﻌﻪ ﻛﻴﻬﺎﻧﻲ ﻭ ﻫﻤﻜﺎﺭﺍﻥ ﺗﺎﺋﻴﺪ ﺷﺪﻩ ﺍﺳﺖ‬
‫)‪ .(12‬ﺍﻳﻦ ﭘﺮﻭﺗﺌﻴﻦ ﻛﻪ ﺑﻴﺎﻥ ﺁﻥ ﺑﻪ ﻃﻮﺭ ﺟﺒﺮﺍﻧﻰ ﺩﺭ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰﻫﺎ‬
‫ﺍﻓﺰﺍﻳﺶ ﭘﻴﺪﺍ ﻣﻰﻛﻨﺪ ﺷﺎﻫﺪ ﺧﻮﺑﻰ ﺑﺮ ﺗﺎﺋﻴﺪ ﺍﻟﮕﻮﻯ ﺭﻧﮓ ﭘﺬﻳﺮﻯ ﻧﺴﺒﻰ‬
‫ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺑﻮﺩ ﻭ ﺍﻓﺰﺍﻳﺶ ﺑﻴﺎﻥ ﻧﺴﺒﻰ ﺍﻳﻦ ﭘﺮﻭﺗﺌﻴﻦ ﺩﺭ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﻧﺸﺎﻥ‬
‫ﺩﺍﺩﻩ ﺷﺪ ﻛﻪ ﺑﺎ ﺍﻧﺠﺎﻡ ﻭﺳﺘﺮﻥ ﺑﻼﺕ ﻧﺘﺎﻳﺞ ﺍﻳﻦ ﻣﻄﺎﻟﻌﻪ ﻧﻴﺰ ﺗﺎﺋﻴﺪ ﮔﺮﺩﻳﺪ‬
‫ﺑﻪ ﻃﻮﺭﻯ ﻛﻪ ﺍﻳﻦ ﻧﺘﺎﻳﺞ ﻣﻮﺟﺐ ﺷﺪ ﺗﺎ ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﻳﻮﺗﺮﻭﻓﻴﻦ ﺩﺭ‬
‫ﺑﺴﺘﻪ ﺗﺸﺨﻴﺼﻰ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ ﺑﻜﺮ ﻗﺮﺍﺭﮔﻴﺮﺩ‪ .‬ﺍﺯ ﺁﻧﺠﺎ ﻛﻪ ﺍﻧﺠﺎﻡ‬
‫ﻭﺳﺘﺮﻥ ﺑﻼﺕ ﺑﺪﻟﻴﻞ ﻫﺰﻳﻨﻪ ﻭ ﺯﻣﺎﻥ ﺯﻳﺎﺩ ﺩﺭ ﺗﻤﺎﻡ ﻣﺮﺍﻛﺰ ﺍﻣﻜﺎﻥ ﭘﺬﻳﺮ‬
‫ﻧﻴﺴﺖ ﺍﻳﻦ ﺭﻭﺵ )ﺍﻳﻤﻴﻨﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﻳﻮﺗﺮﻭﻓﻴﻦ( ﺑﻪ ﻋﻨﻮﺍﻥ ﺭﻭﺷﻰ ﻛﻢ‬
‫ﻫﺰﻳﻨﻪ ﻭ ﺳﺎﺩﻩ ﻣﻰﺗﻮﺍﻧﺪ ﺟﺎﻳﮕﺰﻳﻦ ﺑﺎﺷﺪ‪ .‬ﻧﺘﺎﻳﺠﻰ ﻛﻪ ﺩﺭ ﺗﺤﻘﻴﻖ ﺍﻧﺠﺎﻡ‬
‫ﺷﺪﻩ ﺭﻭﻯ ‪ 50‬ﻛﻮﺩﻙ ﺯﻳﺮ‪ 16‬ﺳﺎﻝ ﻛﻪ ﺍﺯ ﻟﺤﺎﻅ ﻫﻴﺴﺘﻮﭘﺎﺗﻮﻟﻮژﻳﻚ ﻣﺒﺘﻼ‬
‫ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺑﻮﺩﻧﺪ ﺑﻪ ﺩﺳﺖ ﺁﻣﺪﻩ ﻣﺒﻨﻰ ﺑﺮ ﺍﻳﻦ ﺍﺳﺖ ﻛﻪ‬
‫ﻛﺎﺭﺑﺮﺩ ﺁﻧﺘﻰ ﺑﺎﺩﻯ ﻳﻮﺗﺮﻭﻓﻴﻦ ﻧﺘﺎﻳﺞ ﺍﻳﻤﻮﻧﻮﻫﻴﺴﺘﻮﺷﻴﻤﻰ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺭﺍ‬
‫‪34. Congenital Myopathy‬‬
‫‪35. Rod domain‬‬
‫‪36. Western blot analysis‬‬
‫‪37. Utrophin‬‬
‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪2467 90‬‬
‫ﺍﺭﺯﻳﺎﺑﻰ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻫﺎﻯ ﻋﻀﻼﻧﻰ ﺩﺭ ﺳﻄﺢ ﭘﺮﻭﺗﺌﻴﻦ‬
‫ﺗﺎﺋﻴﺪ ﻣﻰﻛﻨﺪ ﻭﻧﻴﺰ ﺩﺭ ﺗﺸﺨﻴﺺ ﻧﺎﻗﻠﻴﻦ ‪ DMD‬ﻣﻮﺭﺩ ﺍﺳﺘﻔﺎﺩﻩ ﻗﺮﺍﺭ‬
‫ﮔﺮﻓﺘﻪ ﻭ ﻧﺘﺎﻳﺞ ﺭﻧﮓ ﺁﻣﻴﺰﻯ ﻳﻮﺗﺮﻭﻓﻴﻦ ﺩﺭ ﺍﻳﻦ ﻧﺎﻗﻠﻴﻦ ﺍﻟﮕﻮﻯ ﻣﻮﺯﺍﺋﻴﻚ‬
‫ﺑﻪ ﺻﻮﺭﺕ ﻣﺘﻘﺎﺑﻞ ‪ 38‬ﺑﺎ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺭﺍ ﻧﺸﺎﻥ ﺩﺍﺩﻩ ﺍﺳﺖ )‪.(13‬‬
‫ﻻﺯﻡ ﺑﻪ ﺫﻛﺮ ﺍﺳﺖ ﻛﻪ ﺍﻣﺮﻭﺯﻩ ﭘﻴﺸﺮﻓﺖﻫﺎﻯ ژﻧﺘﻴﻚ ﻣﻮﻟﻜﻮﻟﻰ ﻧﻴﺎﺯ ﺑﻪ‬
‫ﺑﻴﻮﭘﺴﻰ ﺭﺍ ﺩﺭ ﺍﻛﺜﺮ ﺑﻴﻤﺎﺭﺍﻥ ﻣﺸﻜﻮﻙ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰ ﻛﺎﻫﺶ ﺩﺍﺩﻩ ﻭ‬
‫ﺗﺸﺨﻴﺺ ﺑﺎ ﻳﻚ ﻧﻤﻮﻧﻪ ﺧﻮﻥ ﺍﻧﺠﺎﻡ ﭘﺬﻳﺮ ﺍﺳﺖ‪ .‬ﺩﺭ ﺍﻳﻦ ﺑﻴﻤﺎﺭﺍﻥ ﺟﻬﺶ‬
‫ﺍﻏﻠﺐ ﺑﻪ ﺻﻮﺭﺕ ﺣﺬﻑ ﺑﻮﺩﻩ ﻭ ﻣﻰﺗﻮﺍﻧﺪ ﺑﺮﺍﻯ ژﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺭﺩ ﻳﺎﺑﻰ‬
‫ﺷﻮﺩ ﺍﮔﺮﭼﻪ ﺑﺰﺭﮔﻰ ژﻥ ﺗﺎ ﻛﻨﻮﻥ ﻣﺎﻧﻌﻰ ﺑﺮﺍﻯ ﻳﺎﻓﺘﻦ ﺟﻬﺶ ﺩﺭ ﻛﻞ‬
‫ژﻥ ﻣﺤﺴﻮﺏ ﻣﻰﺷﺪ ﺍﻣﺮﻭﺯﻩ ﺗﻌﻴﻴﻦ ﺗﻮﺍﻟﻰ ژﻥ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺑﻪ ﺻﻮﺭﺕ‬
‫ﺗﺠﺎﺭﻯ ﺩﺭ ﺩﺳﺘﺮﺱ ﺍﺳﺖ‪ .‬ﺑﺎ ﺍﻳﻦ ﺣﺎﻝ ﻣﻌﻤﻮﻻ ﺑﻴﻮﭘﺴﻰ ﻋﻀﻼﻧﻰ ﺑﺮﺍﻯ‬
‫ﺑﻴﻤﺎﺭﺍﻧﻰ ﺑﺎ ﻧﺸﺎﻧﻪﻫﺎﻯ ﺑﺎﻟﻴﻨﻰ ﺍﻧﺠﺎﻡ ﻣﻰﺷﻮﺩ ﻛﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻰ ﻧﺎ‬
‫ﻣﻌﻤﻮﻝ ﺭﺍ ﻧﺸﺎﻥ ﻣﻰﺩﻫﻨﺪ ﻛﻪ ﺍﺯ ﺁﻥ ﺟﻤﻠﻪ ﻣﻰﺗﻮﺍﻥ ﺑﺰﺭﮔﺴﺎﻻﻧﻰ ﺑﺎ ﻋﻼﺋﻢ‬
‫‪ LGMD‬ﻛﻪ ﺑﺮﺧﻰ ﺍﺯ ﺁﻧﻬﺎ ﻧﺎﻫﻨﺠﺎﺭﻯ ﺩﻳﺴﺘﺮﻭﻓﻴﻦ ﺭﺍ ﻧﺸﺎﻥ ﻣﻰﺩﻫﻨﺪ ﻭ‬
‫ﻳﺎ ﺑﺮﺧﻰ ﺯﻧﺎﻧﻰ ﻛﻪ ﺑﻪ ﺩﻟﻴﻞ ﻏﻴﺮ ﻓﻌﺎﻝ ﺷﺪﻥ ﻏﻴﺮ ﺗﺼﺎﺩﻓﻰ ‪ X‬ﺗﻈﺎﻫﺮﺍﺕ‬
‫ﻣﻴﻮﭘﺎﺗﻰ ﺭﺍ ﻧﺸﺎﻥ ﻣﻰﺩﻫﻨﺪ ﺭﺍ ﻧﺎﻡ ﺑﺮﺩ‪ .‬ﺑﻪ ﻋﻼﻭﻩ ﺑﻴﻮﭘﺴﻰ ﺑﺮﺍﻯ ﻛﺎﻫﺶ‬
‫ﺩﺍﻣﻨﻪ ﺍﺣﺘﻤﺎﻻﺕ ﺗﺸﺨﻴﺼﻰ ﻭ ﺍﻃﻤﻴﻨﺎﻥ ﺍﺯ ﻋﺪﻡ ﻣﻴﻮﭘﺎﺗﻰﻫﺎﻯ ﺍﻟﺘﻬﺎﺑﻰ ﺑﻪ‬
‫ﺩﻧﺒﺎﻝ ﺗﺴﺖﻫﺎﻯ ژﻧﺘﻴﻜﻰ ﺍﻧﺠﺎﻡ ﻣﻰﺷﻮﺩ )‪.(9‬‬
‫ﺭﻭﺵﻫﺎﻯ ﺟﺪﻳﺪ ﺗﺸﺨﻴﺼﻲ ‪ BMD/DMD‬ﺩﺭ ﺣﺎﻝ ﺣﺎﺿﺮ ﺷﺎﻣﻞ‬
‫ﺭﻭﺵ ﺗﻜﺜﻴﺮﻭﺍﺑﺴﺘﻪ ﺑﻪ ﺍﺗﺼﺎﻝ ﭘﺮﻭﺏ ‪ 39‬ﻭ ﺑﻪ ﺩﻧﺒﺎﻝ ﺁﻥ ﺗﻌﻴﻴﻦ ﺗﻮﺍﻟﻰ‬
‫ﻣﺴﺘﻘﻴﻢ ﺗﻤﺎﻡ ﺍﮔﺰﻭﻥﻫﺎ ﺩﺭ ﺳﻄﺢ ژﻧﻮﻡ ﻳﺎ ‪ cDNA‬ﺍﺳﺖ‪ .‬ﺍﻳﻦ ﺭﻭﺵ‬
‫ﺗﻤﺎﻡ ﺟﻬﺶﻫﺎﻯ ﻧﻘﻄﻪ ﺍﻯ ﻭﻛﻮﭼﻚ ﺭﺍ ﺷﻨﺎﺳﺎﻳﻰ ﻣﻰﻛﻨﺪ‪ .‬ﺩﺭ ﭼﻨﺪ ﺳﺎﻝ‬
‫ﺍﺧﻴﺮ ﺩﺭﻣﺎﻥﻫﺎﻯ ﺁﺯﻣﺎﻳﺸﻰ ﺩﺭ ﺳﻄﺢ ﻛﻠﻴﻨﻴﻜﻰ ﭘﻴﺸﺮﻓﺖﻫﺎﻯ ﺯﻳﺎﺩﻯ‬
‫ﺩﺍﺷﺘﻪ ﻭ ﻳﻜﻰ ﺍﺯ ﺑﻬﺘﺮﻳﻦ ﺭﻭﺵﻫﺎﻯ ﺍﻣﻴﺪ ﺑﺨﺶ ﭘﺮﺵ ﺍﮔﺰﻭﻧﻰ ﺑﺎ‬
‫ﺍﻭﻟﻴﮕﻮﻧﻮﻛﻠﺌﻮﺗﻴﺪﻫﺎﻯ ﺁﻧﺘﻰ ﺳﻨﺲ‪ 40‬ﺑﻮﺩﻩ ﻛﻪ ﻣﻰﺗﻮﺍﻧﺪ ‪ DMD‬ﺭﺍ ﺑﻪ‬
‫‪ BMD‬ﺗﺒﺪﻳﻞ ﻛﻨﺪ ﺗﺎ ﺍﻓﺮﺍﺩ ﻣﺒﺘﻼ ﺑﻬﺘﺮ ﺑﺘﻮﺍﻧﻨﺪ ﺍﺯ ﺩﺭﻣﺎﻥﻫﺎﻯ ﺁﻳﻨﺪﻩ‬
‫ﺍﺳﺘﻔﺎﺩﻩ ﻛﻨﻨﺪ‪ .‬ﺷﺮﻭﻉ ﺩﺭﻣﺎﻥ ﺩﺭ ﻣﺮﺍﺣﻞ ﺍﻭﻟﻴﻪ ﻭ ﻗﺒﻞ ﺍﺯ ﺗﺤﻠﻴﻞ ﻋﻤﺪﻩ‬
‫ﻋﻀﻼﺕ ﺿﺮﻭﺭﻯ ﺍﺳﺖ ﻭ ﺍﻳﻦ ﺍﻣﺮ ﺿﺮﻭﺭﺕ ﺗﺸﺨﻴﺺ ﻗﻄﻌﻲ ﺯﻭﺩ ﻫﻨﮕﺎﻡ‬
‫ﻭﻏﺮﺑﺎﻝ ﮔﺮﻯ ﺟﻤﻌﻴﺖ ﺭﺍ ﻧﺸﺎﻥ ﻣﻰﺩﻫﺪ )‪.(14‬‬
‫ﻧﺘﻴﺠﻪ ﮔﻴﺮﻯ‬
‫ﺍﺯ ‪ 72‬ﺑﻴﻤﺎﺭ ﻣﺮﺍﺟﻌﻪ ﻛﻨﻨﺪﻩ ﺑﻪ ﻣﺮﻛﺰ ﺗﺤﻘﻴﻘﺎﺕ ژﻧﺘﻴﻚ ﻛﻪ ﺍﺯ ﻟﺤﺎﻅ‬
‫ﺑﺎﻟﻴﻨﻰ ﺑﻴﻤﺎﺭﺍﻥ ﺩﻳﺴﺘﺮﻭﻓﻰ ﻋﻀﻼﻧﻰ ﺑﻮﺩﻧﺪ ‪44‬ﺑﻴﻤﺎﺭ ﺑﺎ ﺍﺳﺘﻔﺎﺩﻩ ﺍﺯ ﺗﻜﻨﻴﻚ‬
‫‪ IHC‬ﺑﻪ ﺗﺸﺨﻴﺺ ﺭﺳﻴﺪﻧﺪ‪ 24:‬ﺑﻴﻤﺎﺭ ﻣﺒﺘﻼ ﺑﻪ ﺩﻳﺴﺘﺮﻭﻓﻴﻨﻮﭘﺎﺗﻲ )ﺷﺎﻣﻞ‬
‫‪ 6‬ﻣﻮﺭﺩ ‪ DMD‬ﻭ ‪ 18‬ﻣﻮﺭﺩ ‪ 14،(BMD‬ﺑﻴﻤﺎﺭ ﻣﺒﺘﻼ ﺑﻪ ‪LGMD‬‬
‫)ﺷﺎﻣﻞ ‪ 11‬ﻣﻮﺭﺩ ﺳﺎﺭﻛﻮﮔﻠﻴﻜﺎﻧﻮﭘﺎﺗﻲ ﻭ ‪ 3‬ﻣﻮﺭﺩ ﺩﻳﺴﻔﺮﻟﻴﻨﻮﭘﺎﺗﻲ ( ﻭ ‪6‬‬
‫ﺑﻴﻤﺎﺭ ﻣﺒﺘﻼ ﺑﻪ ‪) CMD‬ﻧﻮﻉ ﻛﻤﺒﻮﺩ ﻣﺮﻭﺯﻳﻦ ( ﺗﺸﺨﻴﺺ ﺩﺍﺩﻩ ﺷﺪﻧﺪ‪.‬‬
‫ﺳﺎﻳﺮ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺎ ﺁﻧﺘﻰ ﺑﺎﺩﻯﻫﺎﻯ ﺑﺮﺭﺳﻰ ﺷﺪﻩ ﻗﺎﺑﻞ ﺷﻨﺎﺳﺎﻳﻰ ﻧﺒﻮﺩﻧﺪ‬
‫ﻭﻧﺘﻴﺠﻪ ﺑﺮﺭﺳﻰ ﺗﻤﺎﻡ ﺁﻧﺘﻰ ﺑﺎﺩﻯﻫﺎﻯ ﺫﻛﺮ ﺷﺪﻩ ﺑﺮﺍﻯ ﺁﻧﻬﺎ ﻣﺜﺒﺖ ﺑﻮﺩ‪.‬‬
‫ﻣﻄﺎﻟﻌﻪ ﺩﺭ ﺍﻳﻦ ﮔﺮﻭﻩ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺎ ﺍﺳﺘﻔﺎﺩﻩ ﺍﺯ ﺁﻧﺘﻲ ﺑﺎﺩﻱﻫﺎﻱ ﺩﻳﮕﺮ ﺍﺩﺍﻣﻪ‬
‫ﺧﻮﺍﻫﺪ ﻳﺎﻓﺖ‪.‬‬
‫ﺗﺸﻜﺮ‪:‬‬
‫ﺩﺭ ﭘﺎﻳﺎﻥ ﺍﺯ ﻛﻠﻴﻪ ﻫﻤﻜﺎﺭﺍﻥ ﺁﺯﻣﺎﻳﺸﮕﺎﻩ ﻣﺮﻛﺰ ﺗﺤﻘﻴﻘﺎﺕ ژﻧﺘﻴﻚ ﺩﺍﻧﺸﮕﺎﻩ‬
‫ﻋﻠﻮﻡ ﺑﻬﺰﻳﺴﺘﻰ ﻭ ﺗﻮﺍﻧﺒﺨﺸﻰ ﻭ ﺑﻴﻤﺎﺭﺍﻥ ﻣﻌﻠﻮﻝ ﻭ ﺧﺎﻧﻮﺍﺩﻩﻫﺎﻱ ﺁﻧﺎﻥ ﻛﻪ‬
‫ﺻﻤﻴﻤﺎﻧﻪ ﻣﺎ ﺭﺍ ﺩﺭ ﺍﻳﻦ ﻣﻬﻢ ﻳﺎﺭﻯ ﻛﺮﺩﻩ ﺍﻧﺪ ﻗﺪﺭ ﺩﺍﻧﻰ ﻭ ﺗﺸﻜﺮ ﻣﻰﻧﻤﺎﻳﻴﻢ‪.‬‬
‫‪38. Reciprocal‬‬
‫)‪39. Multiplex ligation dependent probe amplification) MLPA‬‬
‫‪40. Antisense Oligonucleotides‬‬
‫‪2468‬‬
‫ژﻧﺘﻴﻚ ﺩﺭ ﻫﺰﺍﺭﻩ ﺳﻮﻡ‪ ،‬ﺳﺎﻝ ﻧﻬﻢ‪ ،‬ﺷﻤﺎﺭﻩ ﺳﻮﻡ‪ ،‬ﭘﺎﻳﻴﺰ‪90‬‬
‫ ﻓﺎﻃﻤﻪ ﺁﻗﺎﺧﺎﻧﻲ ﻣﻘﺪﻡ ﻭ ﻫﻤﻜﺎﺭﺍﻥ‬،‫ ﻛﻴﻤﻴﺎ ﻛﻬﺮﻳﺰﻯ‬،‫ﺍﻟﻬﺎﻡ ﺩﺍﺭﺍﺑﻰ‬
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