en سه جهش جدید در بیماران ایرانی مبتلا به بیماری تای ساکس Related Fields Related Fields مقاله کوتاه Short Communication <p>Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in‌ an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Results: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. Conclusion: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.</p> Tay-Sachs disease, β- hexosaminidase A, β- hexosaminidase B 114 119 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-518&slc_lang=en&sid=1 Solmaz Jamali سولماز جمالی No Nasim Eskandari نسیم اسکندری No Omid Aryani امید آریانی No Shadab Salehpour شاداب صالح پور No Talieh Zaman طلیعه زمان No Behnam Kamalidehghan بهنام کمالی دهقان No Massoud Houshmand مسعود هوشمند massoudh@nigeb.ac.ir Yes