Cystic Fibrosis (CF) is an autosomal recessive disease caused by a defect in the CFTR gene on chromosome 7. This defect predisposes individuals to bacterial infections, notably by Pseudomonas aeruginosa. Diagnosis is confirmed with a chloride sweat test.
La fibrosis quística (FQ) es un trastorno genético autosómico recesivo causado por mutaciones en el gen CFTR, que se encuentra en el cromosoma 7. La FQ predispone a las infecciones bacterianas, particularmente por Pseudomonas aeruginosa. El diagnóstico de FQ se confirma mediante una prueba de sudor para medir los niveles de cloruro.
| Text | Cystic Fibrosis is present on what chromosome? 7 What is the gene defect? CFTR What bacterial infection does this predispose child to? Pseudomonas::bug Cl- defect can be diagnosed by what test? Cl- Sweat test |
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| Extra | Cystic fibrosis (CF) is an autosomal recessive disease that most commonly occurs in the white population. The most common mutation of CFTR protein, delta F508 (class II) is on chromosome 7 and is found in approximately 70% of patients with CF worldwide. It is a deletion of three nucleotides for phenylalanine (hence, the F) at positions 507 and 508 (hence, the 508) of the CFTR gene, which causes misfolding that prevents the product's movement from the endoplasmic reticulum to the Golgi apparatus (cell trafficking) |
Tags: microbiology
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