[巴西东北部累西腓两个参考中心收治的麻风反应患者的NRAMP1基因多态性]
[NRAMP1 gene polymorphisms in individuals with leprosy reactions attended at two reference centers in Recife, northeastern Brazil].
作者信息
Teixeira Márcia Almeida Galvão, Silva Norma Lucena, Ramos Alessandra de Luna, Hatagima Ana, Magalhães Vera
机构信息
Policlínica Lessa de Andrade, Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil.
出版信息
Rev Soc Bras Med Trop. 2010 May-Jun;43(3):281-6.
INTRODUCTION
To investigate susceptibility to leprosy reactions, three polymorphisms of the natural resistance-associated macrophage protein (NRAMP1) gene were determined in 201 individuals who were attended at two reference centers in Recife, between 2007 and 2008. Of these, 100 were paucibacillary and 101 were multibacillary.
METHODS
The 274C/T, D543N and 1729+55del4 polymorphisms of the NRAMP1 gene were determined using the technique of restriction fragment polymorphism on DNA extracted from peripheral blood. Allelic and genotypic frequencies were estimated by direct counting.
RESULTS
The predominant genotypes were: CC (51.8%) for 274C/T; GG (86.6%) for D543N; and +-TGTG (59.9%) for 1729+55del4. The mutant genotype 274 TT predominated in negativity of the reverse reaction (p = 0.03) and in positivity of erythema nodosum leprosum (p = 0.04).
CONCLUSIONS
Our results suggest that 274 C/T polymorphism of the NRAMP1 gene may aid in determining the susceptibility to type II reactions among leprosy patients.
引言
为了研究麻风反应的易感性，于2007年至2008年期间，在累西腓的两个参考中心对201名患者的天然抗性相关巨噬细胞蛋白（NRAMP1）基因的三种多态性进行了测定。其中，100例为少菌型，101例为多菌型。
方法
采用限制性片段多态性技术，对外周血提取的DNA进行NRAMP1基因的274C/T、D543N和1729 + 55del4多态性测定。通过直接计数估计等位基因和基因型频率。
结果
主要基因型为：274C/T的CC（51.8%）；D543N的GG（86.6%）；1729 + 55del4的±TGTG（59.9%）。突变基因型274 TT在逆向反应阴性（p = 0.03）和结节性红斑阳性（p = 0.04）中占主导。
结论
我们的数据表明，NRAMP1基因的274 C/T多态性可能有助于确定麻风患者对II型反应的易感性。
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