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A Novel Mutation in Agl Gene Causes Glycogen Storage Disease Type Iii
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DOR
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20.1001.2.9920068682.1399.1.1.446.0
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نویسنده
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Papi Atefe ,Galehdari Hamid ,Shariati Gholamreza ,Zamani Mina ,Zeighami Jawaher ,Yadegari Tahereh ,Sedaghat Alireza ,Jahangirnezhad Emad ,Saberi Alihossein ,Hamid Mohammad
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منبع
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ژنتيك ايران - 1399 - دوره : 16 - شانزدهمین کنگره و چهارمین کنگره بین المللی ژنتیک ایران - کد همایش: 99200-68682
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چکیده
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Background and aim: glycogen storage disease type iii (gsdiii) is a rare autosomal recessive disorder caused by deficiency of the glycogen debranching enzyme. (amylo-1,6-glucosidase, 4-alpha-glucanotransferase (agl)) activity. gsd iii, also known as forbes or cori's disease, is characterized by the accumulation of abnormal glycogen in the liver and muscles.methods: we collected 5-ml of peripheral blood from a patient presenting gsd symptoms. dna was isolated using salting out method. the coding region and intron–exon boundaries of the agl were amplified using pcr. pcr purification and bidirectional sanger sequencing of the pcr products were done.results: we identified a novel substitution; c.3682c>t, p.arg1228x. according to the insilico analysis we suggest the variation is probably damaging.conclusion: a novel mutation in the agl gene, c.3682c>t in an iranian affected person was identified. this mutation affects the c-terminal region of the protein. mutation of this region disruptsglucosidase activity of the enzyme. it should be considered in genetic assessment of the patients suffering gsd in southwest of iran.
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کلیدواژه
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Gsdiii ,Agl ,C.3682c>T ,Southwest Of Iran
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آدرس
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Shahid Chamran University Of Ahvaz, Iran, Jondishapour University Of Medical Sciences, Iran, Jondishapour University Of Medical Sciences, Iran, Narges Medical Genetics Laboratory, Iran, Narges Medical Genetics Laboratory, Iran, Narges Medical Genetics Laboratory, Iran, Narges Medical Genetics Laboratory, Iran, Narges Medical Genetics Laboratory, Iran, Narges Medical Genetics Laboratory, Iran, Narges Medical Genetics Laboratory, Iran
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Authors
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