| چکیده انگلیسی مقاله |
Objective: Hearing loss is the most frequent neurosensory defect in human. Mutations in GJB2 and GJB6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (ARNSHL) cases. Here we report on the frequencies of GJB2 and GJB6 mutations and three large deletions spanning the GJB6 gene including Del (GJB6-D13S1830), Del (GJB6-D13S1854) and a >920 kb deletion in patients affected by ARNSHL referred to Kawsar's Human Genetics Research Center. Materials and Methods: In this study, 94 patients from 63 families with ARNSHL were investigated. Patient's homozygote for 35delG were screened and left out of the study and the remaining samples were analyzed by sequencing of GJB2 and GJB6 genes. Also the three large deletions spanning the GJB6 gene were analyzed by Real Time PCR Results: In this study we found GJB2 mutations in 13 families (20.6%) out of 63. The 35delG mutation was the most common mutation in the studied population (61.5%). Other GJB2 mutations were delE120, R127H, W24X, and V37I. The heterozygous or negative cases for the GJB2 mutations were screened for mutation in the GJB6 gene by sequencing and no mutation was observed. Also, we checked the three large deletions in GJB6, we found no mutations. Conclusion: Low frequency of mutations in the GJB2 gene implies that other genes may be involved in causing non-syndromic hearing loss in our country. |
| نویسندگان مقاله |
عاطفه شیرکوند |
m.sc. student, department of biology, faculty of sciences, razi university, kermanshah, iran
سازمان اصلی تایید شده: دانشگاه رازی (Razi university)
نجات مهدیه |
ph.d. student, department of medical genetics, faculty of medicine, ilam university of medical sciences, ilam, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایلام (Ilam university of medical sciences)
حمیده باقریان |
m.d. and genetic counselor, medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
مریم شرفی فرزاد | sharafi farzad
b.sc., medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
رقیه وحیدی |
b.sc., medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
سوده کیانفر |
b.sc., medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
سحر قهرمانی |
b.sc., medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
مریم عاشری |
b.sc., medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
مرضیه رییسی |
b.sc., medical genetics laboratory of dr. zeinali, kawsar amp;apos;s human genetics research center, tehran, iran
زهرا زینالی |
m.d. student, faculty of medicine, iran university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)
زهرا ظفری |
m.sc. student, department of biology, khatam university, tehran, iran
اکرم قاسمی |
m.sc. student, department of microbiology, azad university of jahrom, fars, iran
سازمان اصلی تایید شده: دانشگاه جهرم (Jahrom university)
سیروس زینالی |
associate professor, biotechnology research center, pastuer institute of iran, tehran, iran
|