Análise de polimorfismos do gene da fibrilina-1 em indivíduos portadores de hérnia inguinal através do seqüenciamento de DNA / Polymorphisms analysis of the fibrillin-1 gene in individuals with inguinal hernia by DNA sequencing

AUTOR(ES)
DATA DE PUBLICAÇÃO

2007

RESUMO

The inguinal hernia is a multifactorial disease that emerge from the Fruchaud orifice, closed only by the transversalis fascia. Lately it has been showed that disorders on the connective tissue elements, as the collagen and elastic fibers, are related to the inguinal hernia genesis. Previous studies have showed structural and quantitative changes of the elastic fibers at the transversalis fascia with aging, that may be related to inguinal hernia at the fifth decade of life. Recent studies have demonstrated an association among a punctual mutation on exon 20 of the elastin gene, amorfous component of the elastic fibers, and male individuals with inguinal hernia. The fibrillin-1 is the main microfibrillar component of the elastic fibers and is associated to genetic syndromes as Marfan, Ehlers-Danlos and Williams, that also present inidividuals with hernias. Thus, the objective of this study was to investigate the presence of polymorphisms on the fibrillin-1 gene (FBN1) on individuals who developed inguinal hernia. The desoxirribonucleic acid (DNA) of 60 individuals with inguinal hernia and 60 controls have been studied. The exons 4, 13, 24, 25, 26, 27, 31, 32, 39, 41, 59 and 65 were amplyfied by the Polymerase Chain Reaction and later evaluated the polymorphisms on polyacrilamide gel. The amplification product of these exons were evaluated by DNA sequencing and compared to the National Human Genome Research Institute database. Consistent mutations were observed at exon 27: 1) insertion of a base between codons 1119 and 1120 (GAT ->AGA); 2) insertion of a base between codons 1116 and 1117 (TGT ->CTG); 3) insertion of a base on codon 1148 (CCC ->CGC); and at exon 31: insertion of a base between codons 1282 and 1283 (GAG ->CGA). There was no statistic significance that could indicate the association between FBN1 gene and inguinal hernia. However, FBN1 is a large gene (350 kD, shared in 65 exons) and in other disorders as Marfan Syndrome, more than 500 mutations have already been described, without the existence of prevalent exons that have major responsability about the Syndrome, it is possible that other exons could be related to the happening of inguinal hernia.

ASSUNTO(S)

hernia inguinal/genetics hérnia inguinal/genética polymorphism genetic dna microfibrils polimorfismo genético dna microfibrilas

ACESSO AO ARTIGO

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