Genetic homogeneity of cystic fibrosis

Genetic homogeneity of cystic fibrosis.

We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the me...

Cystic fibrosis--a genetic dilemma.

Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There a...

Isolation and Genetic Fingerprinting of Pseudomonas aeruginosa from Iranian Patients with Cystic Fibrosis Using RAPD-PCR

Sixty four Iranian patients with cystic fibrosis (CF) were studied for colonization with Pseudomonasaeruginosa. The patient’s age ranged between 2 months to 18 years old. Twenty one patients werecolonized, 15 with non-mucoid and 6 with mucoid strains of P. aeruginosa. The colonization rateincreased with age and the mucoid phenotype was only recovered from the older patients. A...

Genetic Modifiers of Cystic Fibrosis–Related Diabetes

Diabetes is a common age-dependent complication of cystic fibrosis (CF) that is strongly influenced by modifier genes. We conducted a genome-wide association study in 3,059 individuals with CF (644 with CF-related diabetes [CFRD]) and identified single nucleotide polymorphisms (SNPs) within and 5' to the SLC26A9 gene that associated with CFRD (hazard ratio [HR] 1.38; P = 3.6 × 10(-8)). Replicat...

Preconception genetic diagnosis of cystic fibrosis.