Cystic fibrosis gene analysis: recent diagnostic applications.

Cystic fibrosis (CF) is the most common severe genetic disease of Caucasians. Recent work by several laboratories has resulted in the identification of the CF gene and its major mutation. These findings have greatly facilitated carrier detection and prenatal diagnosis for members of families with a history of CF.

Technical aspects of quantification of aluminum.

Aluminum has been implicated as a contributing factor to dialysis encephalopathy syndrome (DES) and osteomalacic osteodystrophy. Monitoring of its level together with i-PTH, desferoxamine infusion test, or bone biopsy gives the degree of intoxication. Specimens for aluminum must be collected in containers washed in nitric acid or disodium EDTA to avoid contamination.