RESUMO

Crohn's disease is a chronic, relapsing inflammatory bowel disease; it affects the mucosa and deeper layers of the digestive wall. Two Crohn's disease patients who carried the JW1 variant and two patients who carried the SNP5 variant were investigated for other co-inherited polymorphisms that could influence Crohn's disease development. Based on the sequencing results, a homozygous 5'-UTR-59 G to A variant in exon 1 (SNP6) was observed in a patient who carried SNP5, while a heterozygous SNP6 variant was detected in the other patient who carried SNP5. No other associated mutations or polymorphisms were detected in the two patients who carried the JW1 variant of the CARD15/NOD2 gene.

Assuntos

Doença de Crohn/genética , Variação Genética , Padrões de Herança/genética , Mutação/genética , Regiões 5' não Traduzidas/genética , Sequência de Bases , Análise Mutacional de DNA , Éxons/genética , Humanos , Integrina alfaV/genética , Malásia , Dados de Sequência Molecular