Cystic fibrosis carrier testing in an ethnically diverse US population.

BACKGROUND: The incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range of serious clinical consequences, notably lung and pancreatic disease, which are only partially dependent on genotype. METHODS: An allele-specific primer-extension reaction, liquid-phase hybridization to a bead array, and subsequent fluorescence detection were used in testing for carriers of 98 CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations among 364 890 referred individuals with no family history of CF. RESULTS: One in 38 individuals carried one of the 98 CFTR mutations included in this panel. Of the 87 different mutations detected, 18 were limited to a single ethnic group. African American, Hispanic, and Asian individuals accounted for 33% of the individuals tested. The mutation frequency distribution of Caucasians was significantly different from that of each of these ethnic groups (P < 1 × 10⁻¹°). CONCLUSIONS: Carrier testing using a broad mutation panel detects differences in the distribution of mutations among ethnic groups in the US.

The application of remote sensing for detecting mass graves: an experimental animal case study from Costa Rica.

Detection of mass graves utilizing the hyperspectral information in airborne or satellite imagery is an untested application of remote sensing technology. We examined the in situ spectral reflectance of an experimental animal mass grave in a tropical moist forest environment and compared it to an identically constructed false grave which was refilled with soil, but contained no cattle carcasses over the course of a 16-month period. The separability of the in situ reflectance spectra was examined with a combination of feature selection and five different nonparametric pattern classifiers. We also scaled up the analysis to examine the spectral signature of the same experimental mass grave from an air-borne hyperspectral image collected 1 month following burial. Our results indicate that at both scales (in situ and airborne), the experimental grave had a spectral signature that was distinct and therefore detectable from the false grave. In addition, we observed that vegetation regeneration was severely inhibited over the mass grave containing cattle carcasses for up to a period of 16 months. This experimental study has demonstrated the real utility of airborne hyperspectral imagery for the detection of a relatively small mass grave (5 m(2)) within a specific climatic zone. Other climatic zones will require similar actualistic modeling studies, but it is clear that the applications of this technology provide the international community with both an early detection tool and a tool for ongoing monitoring.