Anti-FECH monoclonal antibody, clone 4I4

From magnetic orientation under static and rotating magnetic fields for REOFeAs, REOCuS and FeCh, we discuss determination factors of magnetic anisotropies for the above compounds. Behaviours of the magnetic orientation were quite different between REOFeAs and REOCuS, and revealed that FeAs layers and RE3+ ions played main roles as determination factors of magnetic anisotropies in REOFeAs and REOCuS, respectively. Furthermore, FeSe and FeTe compounds with the same crystal structure possess different magnetic axes, and we clarified that FeTe was the one and only compound with the easy axis parallel to the c-axis among the Fe-based layered compounds. (C) 2012 Published by Elsevier B.V. Selection and/or peer-review under responsibility of ISS Program Committee

Background Erythropoietic protoporphyria (EPP) results from a partial deficiency of ferrochelatase (FECH). Clinical expression normally requires coinheritance of a common hypomorphic FECH allele (IVS3-48C) in trans to a deleterious (primary) FECH mutation. Objective To characterize South African subjects with EPP, by identification and assessment of FECH sequence variations, including the IVS3-48C polymorphism. Methods Polymerase chain reaction amplification, single-strand conformational polymorphism analysis and restriction endonuclease analysis were employed to identify and determine the frequencies of FECH sequence variations, including the IVS3-48C polymorphism, in a study cohort of symptomatic and asymptomatic South African EPP family members, and a matched control cohort. Results We identified 29 patients from 18 families. With the exception of one family, who may represent a phenocopy of EPP, the presentation of EPP was typical. All were of European immigrant stock, and we have not identified EPP in other ethnic groups. Ten sequence variations were identified, including four apparent disease-causing mutations, the IVS3-48T/C polymorphism and five further polymorphisms. The molecular basis of EPP was established for 15 of the 17 families. A 5-bp deletion in exon 7 (757_761delAGAAG) was present in 12 of these families and haplotype studies in these families suggested a single mutational event and thus a local founder effect for this deletion. The other mutations were family specific and included two previously described splice-site mutations (IVS3+2T > G and IVS7+1G > A) and a novel 7-bp deletion in exon 4 (356_362delTTCAAGA). Conclusions The IVS3-48C allele appears to modulate the phenotypic expression of EPP in the South African EPP cohort as observed in other populations.