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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Iranian Journal of Basic Medical Sciences
- نوع مقاله: Journal Article
- کلمات کلیدی: GJB2,ARNSHL,Connexin Cx26,Hereditary hearing loss
- چکیده:
- چکیده انگلیسی: Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations plus one novel (358delGAG) were found in 25% of study group. The 35delG mutation (64%) constituted the majority of GJB2 mutations. Conclusion Role of GJB2 mutation in Iranian young deaf population is more prominent than previous study that can be a result of higher consanguine marriage in population. But our result shows that there is only 25% non- syndromic hearing loss due to high frequency of consanguine marriage in Iranian population. Identification of other genes involved in genetic deafness will help us understand the fundamental mechanisms of normal hearing, both in early diagnosis and therapy.
- انتشار مقاله: 31-06-1394
- نویسندگان: Masoumeh Falah,Massoud Houshmand,Susan Akbaroghli,Saeid Mahmodian,Yaser Ghavami,Mohammad Farhadi
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Hereditary Angioedema,Pedigree,several,family members
- چکیده:
- چکیده انگلیسی: Hereditary Angioedema (HAE) is a rare, autosomal dominant genetic disease, characterized clinically by episodic non-pruritic swelling of face, limbs and tissue just beneath the skin. Laryngeal edema is the main cause of death in these patients. Sometimes the disease may affect the family members of the index case. Therefore, early recognition of disease in family members of the patients may prevent potential consequence of mortality. The report is a family with a large number of patients with this disease.A 33-year-old man was presented with complaints of periodic abdominal pain, episodic swelling of hands and feet, and respiratory distress. Similar symptoms were reported by his siblings and his mother. Laboratory studies illustrated low C4, CH50 and C1q inhibitor levels consistent with HAE. Pedigree analysis indicated a large number of affected people in this family. MLPA was performed to remove or reproduce the SERPING1 gene with probemix P243-A3 of MRC-Holland revealing a heterozygous substitution in exon 3 gene (c.467C>A). Due to the wide variety of disease expression, clinical characteristics and pedigree analysis were appropriate to recognize the HAE.
- انتشار مقاله: 17-10-1397
- نویسندگان: Zahra Daneshmandi,Sepideh Darougar,Susan Akbaroghli,Elham Torabi,Dorrotya Csuka,Henriette Farkas,Lilian Varga,Mehrnaz Mesdaghi,Zahra Chavoshzadeh
- مشاهده