Frequency of four mutations in MYO7A and MYO15A genes in Iranian patients with nonsyndromic hearing loss
سال انتشار: 1397
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 384
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شناسه ملی سند علمی:
CIGS15_089
تاریخ نمایه سازی: 13 بهمن 1398
چکیده مقاله:
Deafness is the most common sensory disorder in humans, which affects individuals in both inherited and acquired forms. The prevalence of deafness in Iran is estimated to be 2 to 3 times more than the rest of the world. To date, more than 60 genes associated with autosomal recessive non-syndromic hearing loss (ARNSHL) have been reported. MYO15A and MYO7A are two of these genes and after GJB2, their mutations have a major role in the development of deafness. So far, no specific study has been conducted to investigate the prevalence of mutations of these two genes in Iranian patients. That s why we decided to examine the existence of two mutations T1769A and R2124Q in MYO15A gene and two mutations R212H and R395H in MYO7A gene in 100 Iranian unrelated deaf. All of these mutations except R212H in MYO7A have been reported previously in Iranian deaf. R212H is the most common mutation in MYO7A gene which has been reported up till. To investigate the existence of T1769A mutation, we used the tetra-primer ARMS-PCR method and to check R2124Q, R212H, R395H and probable adjacent mutations we took advantage of High Resolution Melting (HRM) analysis. Finally, suspicious samples were sequenced to confirm the presence of mutations. None of the mentioned mutations were diagnosed among 100 unrelated patient samples. Due to the large size of these genes, we suggest researchers use sequencing methods and, if possible, linkage analysis for further studies.
کلیدواژه ها:
نویسندگان
Mahsa Farjami
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;
Malihe Alimardani
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;. Department of Medical Genetics, Tabriz Univ
Majid mojarrad
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;