عباس پور رودبانه, احسان ، پناهی, محمد ، رحیمی, بهاره ، مکبر, هاله ، فرج الهی, رضا ، داورنیا, بهزاد (1400) جهش GJB2 در جمعیت آذری ایران با ناشنوایی غیر سندرمیک اتوزومال مغلوب : اولین گزارش از جهش c.238 C>A در ایران. Journal of Clinical Laboratory Analysis ــ 35 (11). e24024. شاپا 0887-8013
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آدرس اینترنتی رسمی : https://onlinelibrary.wiley.com/doi/10.1002/jcla.2...
عنوان انگليسی
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran
خلاصه انگلیسی
Objective: Autosomal-recessive nonsyndromic hearing loss (ARNSHL) is a heterogeneous genetic disorder. Mutations in the gap junction protein beta 2 (GJB2) gene, encoding connexin 26, are a significant cause of ARNSHL in different ethnic groups. This study aimed to identify the frequency and type of GJB2 mutations in the Iranian Azeri population. Methods: Fifty unrelated families presenting ARNSHL in Ardabil Province, the northwest of Iran, were studied to determine the frequency and type of GJB2 mutations leading to ARNSHL. ARMS-PCR screened all DNA samples to detect c.35delG; p. Gly12Val mutation. In addition, normal samples for c.35delG; p. Gly12Val were analyzed by direct sequencing for other GJB2 mutations. Result: Of the fifty families, 13 (26%) showed a GJB2 gene mutation, with c.35delG; p. Gly12Val mutation was the most prevalent one that occurred in eight (61.5%) out of the 13 families. Of the families, two were homozygous for c.358-360delGAC; p. Glu120del mutation, and one was homozygous for c.290dupA; p. Tyr97Ter and c.299– 300delAT; p. His100Arg mutations. Also, we detected a novel mutation, c.238C>A; p. Gln80lys, in one of the families. Conclusion: Our findings are comparable to previous studies, indicating c.35d3lG; p. Gly12Val mutation in the GJB2 gene is the most common cause of GJB2-related hearing loss in the Iranian Azeri population. Furthermore, our study highlights the significance of ARNSHL screening programs of live births based on local population data in Iran.
نوع سند : | مقاله |
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زبان سند : | انگلیسی |
نویسنده اول : | احسان عباس پور رودبانه |
نویسنده : | محمد پناهی |
نویسنده : | بهاره رحیمی |
نویسنده : | هاله مکبر |
نویسنده : | رضا فرج الهی |
نویسنده مسئول : | بهزاد داورنیا |
ضریب تاثیر و نمایه مجلات: | IF: 3.124 Indexed in: ISI, PubMed/Medline, Scopus, Embase |
کلیدواژه ها (انگلیسی): | Azeri population, gap junction protein beta 2, GJB2, hearing loss, Iran, nonsyndromic hearing , loss |
موضوعات : | QZ آسیب شناسی |
بخش های دانشگاهی : | دانشكده پزشكي > گروه علوم پایه > بخش ژنتیک |
کد شناسایی : | 16993 |
ارائه شده توسط : | دکتر بهزاد داورنیا |
ارائه شده در تاریخ : | 18 اردبهشت 1402 10:46 |
آخرین تغییر : | 18 اردبهشت 1402 10:46 |
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