Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Abstract excerpt

Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis. The mutation spectrum in Hispanics, however, remains poorly defined. A group of 257 self-identified Hispanics with clinical manifestations consistent with CF were studied by temporal temperature gradient...

Topics

• Adolescent
• Adult
• Alleles
• Child
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• DNA Mutational Analysis
• Early Diagnosis
• Female
• Gene Frequency
• Hispanic or Latino
• Humans