Detection and analysis of BTNL2 gene mutations in patients diagnosed with skin sarcoidosis

Kamyab Hesari, Kambiz; Taleb, Shayandokht; Montaser-Kouhsari, Laleh; Firooz, Alireza

Volume 1, Issue 2 (6-2010) jdc 2010, 1(2): 65-69 | Back to browse issues page

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Kamyab Hesari K, Taleb S, Montaser-Kouhsari L, Firooz A. Detection and analysis of BTNL2 gene mutations in patients diagnosed with skin sarcoidosis. jdc 2010; 1 (2) :65-69
URL: http://jdc.tums.ac.ir/article-1-61-en.html

Detection and analysis of BTNL2 gene mutations in patients diagnosed with skin sarcoidosis

Kambiz Kamyab Hesari ^*

¹, Shayandokht Taleb

, Laleh Montaser-Kouhsari

, Alireza Firooz

Abstract: (8755 Views)

Background and Aim: Sarcoidosis is a non-caseous granulomatous disease that can involve several organs such as lung, kidney, liver, heart and skin. In systemic sarcoidosis, skin lesions occur in 20-35% of patients. Cutaneous sarcoidosis with no systemic involvement was found in about 25% of patients. Mutation within Butyrophilin-like 2 (BTNL2) gene, rs2076530 was reported in systemic sarcoidosis. However, there is no report of evaluation of mutation in BTNL2 gene with the diagnosis of skin sarcoidosis.
Methods: In this study ten patients with skin sarcoidosis were evaluated for the mutation of rs2076530 allele in exon 5 of BTNL2 gene. This assessment was performed by the single strand conformation polymerase chain reaction (SSCP-PCR) in which the existing mutations with positive shift were deteced using directl sequence analysis. Data from sequence analysis were evaluated and blusted by means of Choroms computer software.
Results: Our results showed the BTNL2 G→A transition of rs2076530 in seven patients and three patients were normal.
Conclusion: This pilot study concludes the presence of a mutation at rs2076530 in exon 5 of BTNL2 gene in patients with skin sarcoidosis. Larger studies are needed to evaluate the role of this finding.