Detection In Case Research Articles

Prenatal deletion detection in a sporadic case of Duchenne muscular dystrophy without genotype information from the affected individual

We describe the application of deletion screening by amplification of deletion-prone exons via polymerase chain reaction (PCR) in a family with a sporadic case of Duchenne muscular dystrophy (DMD). No DNA was available from the affected patient who died 12 years beforehand at the age of 18 years. Material obtained prenatally from two male fetuses exhibited an identical deletion. These findings effectively transformed a sporadic case into a familial case and a numerical carrier risk was substituted by obligate carrier status. Additionally an indirect genotype analysis was replaced by the possibility of direct DNA analysis. Genetic counselling, formerly based upon incomplete data, can now be aided by precise risk assessment.

Incoherent optical heterodyne detection and its application to air pollution detection

Fundamental problems of incoherent optical heterodyne detection are analyzed. Output of the heterodyne detection depends on the spatial and temporal coherences of incoming incoherent signal light on the photodetector surface. The directivity of optical heterodyne detection is concluded to be the same as with that of direct detection in an ideal case in which the image of the object is well focused on the photodetector surface. This incoherent heterodyne detection is applied to air pollution monitoring. In the laboratory, the absorption spectra due to NH(3), Freon, and SF(6) are measured using an incoherent light source, and the concentrations of each gas were determined by using the least-squares method.