Molecular karyotyping of a dysmorphic girl from Saudi Arabia with CYP1B1-negative primary congenital glaucoma.
Ophthalmic Genet. 2014 Jun 9:1-4. [Epub ahead of print]
Abu-Amero K, et al.
The authors used sequencing and Affymetrix microarrays to study a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90 percent of cases of primary congenital glaucoma and the remaining cases are idiopathic. Array analysis revealed 2 de novo 7p heterozygous duplications and a 4p homozygous microdeletion encompassing one gene only, DTHD1.
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
Eur J Hum Genet. 2014 Jun 11. [Epub ahead of print]
Hirokawa M, et al.
To identify MI susceptibility loci in Japanese, the authors conducted a GWAS using 1,666 cases and 3,198 controls using the Illumina Human610-QuadBeadChip and HumanHap550v3 Genotyping BeadChip. The study identified two novel susceptibility loci for MI: PLCL2 on chromosome 3p24.3 and AP3D1-DOT1L-SF3A2 on chromosome 19p13.3.
6-Plex microsphere immunoassay with imaging planar array detection for mycotoxins in barley.
Analyst. 2014 Jun 12. [Epub ahead of print]
Peters J, et al.
The authors developed a semi-quantitative 6-plex immunoassay using a suspension array of paramagnetic color-coded microspheres combined with imaging planar array detection for the mycotoxins aflatoxin B1, ochratoxin A, zearalenone, deoxynivalenol, T2-toxin, HT-2 toxin, and fumonisin B1. They report that the resulting low-cost system is transportable, making it attractive for on-site testing in the future.