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Prevalence of Filaggrin Gene R501X Mutation in Indian Children with Allergic Diseases. OBJECTIVE: To determine the prevalence of R501X mutation of Filaggrin gene in children with allergic diseases. METHODS: Ninety patients recruited from Allergy and Asthma clinic of Advanced Pediatric Centre, PGIMER, Chandigarh and 81 healthy controls from local schools matched for age, gender and BMI were enroled in the present study. The R501X mutation analysis was done by PCR-RFLP method. RESULTS: Out of the 90 enroled allergic children, 5 (5.5%) were mutant (AA) for R501X genotype, 44 (43.3%) had (AA+Aa) genotype and 46 (51.1%) had (aa) genotype. However, in the control group there were no mutant (AA) for R501X, 36 (44.4%) had (AA+Aa) genotype and 45 had wild type homozygous (aa) genotype. There were 3.3% and 2.2% children with asthma and asthma concomitantly with eczema having mutant R501X genotype. CONCLUSIONS: In the present study, the prevalence of Filaggrin mutant genotype (R501X) was detected in approximately 5.5% of children with allergic diseases.