What does the R117H mutation in cystic fibrosis require for analysis?

The R117H mutation in cystic fibrosis is associated with a specific variant in the CFTR gene, which plays a critical role in the pathology of cystic fibrosis. This mutation is located within a complex region of the gene where there’s a polymorphic PolyT tract that can influence the expression of the CFTR gene and the severity of the disease. Therefore, PolyT tract analysis is essential to thoroughly evaluate the implications of the R117H mutation, as variations within this tract may affect the phenotypic consequences of the mutation.

This analysis helps ensure accurate interpretation of the CFTR genotypes, particularly since the presence of different alleles and variations can alter the clinical presentation in affected individuals. By including PolyT tract analysis, healthcare providers can better understand the potential impact of the R117H mutation on cystic fibrosis patients, guiding more informed decisions regarding management and treatment strategies.

In contrast, sequencing primarily focuses on identifying and confirming the base pair changes within the gene but may not provide the full context that PolyT analysis reveals regarding this specific mutation. Similarly, deletion testing and coding region analysis would not specifically assess the influence of the PolyT tract, which is crucial in the case of R117H.