Investigation of mutation in Exon 10 of COL17A1 in patients with Bulluos pemphigoid

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Haj Manoochehri Sedigheh; Tabatabaei Panah Pardis Sadat; AKBARZADEH REZA

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Journal: Daneshvar Medicine: Basic and Clinical Research Journal Year:2018 | Volume:25 | Issue:136 Page(s): 55-63

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Title

Investigation of mutation in Exon 10 of COL17A1 in patients with Bulluos pemphigoid

Author(s)

Haj Manoochehri Sedigheh | Tabatabaei Panah Pardis Sadat | AKBARZADEH REZA | Issue Writer Certificate

Keywords

COL17A1Q1

Bullous pemphigoidQ1

Autoimmune diseaseQ1

MutationQ2

Abstract

Background and Objective: Bullous pemphigoid (BP) is the most frequently occurring entity among autoimmune bullous skin diseases. Although the genetic determinants of BP have not been precisely elucidated, some studies have shown an association between a Mutation in Exon 10 of COL17A1 gene (rs805708) and BP disease susceptibility. Yet, these findings had so far not been independently replicated, and no data on a possible association of these Mutations and BP in Iranian population were available. Materials and Methods: This study contained 20 BP patients and 20 healthy controls. Genomic DNA was isolated using DNG-plus. The Mutation in Exon 10 of COL17A1 gene (rs805708) was evaluated by using tetra-primer ARMS PCR method. Several relevant information such as demographic data (age, gender, and so forth) or clinical characteristics were analyzed for a possible effect of these factors on susceptibility to BP in patients. Results: The results of the Mutation in Exon 10 of COL17A1 gene (rs805708) showed no significant difference between patients and controls (p>0. 05). Conclusion: Comparison of mutant genotype in a Mutation in Exon 10 of COL17A1 gene (rs805708) showed no significant difference. These results show that the genetic predisposition to develop BP can greatly varies among different ethnic groups.

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APA: Copy

Haj Manoochehri, Sedigheh, Tabatabaei Panah, Pardis Sadat, & AKBARZADEH, REZA. (2018). Investigation of mutation in Exon 10 of COL17A1 in patients with Bulluos pemphigoid. DANESHVAR MEDICINE, 25(136 ), 55-63. SID. https://sid.ir/paper/31053/en

Vancouver: Copy

Haj Manoochehri Sedigheh, Tabatabaei Panah Pardis Sadat, AKBARZADEH REZA. Investigation of mutation in Exon 10 of COL17A1 in patients with Bulluos pemphigoid. DANESHVAR MEDICINE[Internet]. 2018;25(136 ):55-63. Available from: https://sid.ir/paper/31053/en

IEEE: Copy

Sedigheh Haj Manoochehri, Pardis Sadat Tabatabaei Panah, and REZA AKBARZADEH, “Investigation of mutation in Exon 10 of COL17A1 in patients with Bulluos pemphigoid,” DANESHVAR MEDICINE, vol. 25, no. 136 , pp. 55–63, 2018, [Online]. Available: https://sid.ir/paper/31053/en

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