Distribution of AGG interruption patterns within nine world populations.

The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States.

First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting.

Rationale: For Newborn Screening (NBS) programs all over the world whole blood dried on filter paper, also referred to as dried blood spots (DBS), has been the standard specimen for decades. In recent years DBS have attracted the attention of pharmaceutical companies, mostly due to the low volume of collected sample and simplified, therefore more cost-efficient, transportation requirements. However, the classical NBS workflow did not totally fulfil the needs of their studies, especially with respect to high-throughput unassisted sample processing for tandem mass spectrometric (MS/MS) analysis.

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.

Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of sensitivity and specificity of newborn screening for certain disorders. We have analyzed 92 pairs of dried blood samples taken pre- and one hour postprandially, respectively.