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Verweij S.P.,Laboratory of Immunogenetics | Catsburg A.,VU University Amsterdam | Ouburg S.,Laboratory of Immunogenetics | Lombardi A.,University of Milan | And 5 more authors.
Clinical Microbiology and Infection | Year: 2011

The management of the ongoing lymphogranuloma venereum epidemic in industrialized Western countries caused by Chlamydia trachomatis variant L2b still needs improvements in diagnosis, therapy and prevention. We therefore developed the first rapid C. trachomatis variant L2b-specific polymerase chain reaction to circumvent laborious ompA gene sequencing. © 2011 The Authors. Clinical Microbiology and Infection © 2011 European Society of Clinical Microbiology and Infectious Diseases. Source


Frischknecht H.,Institute for Medical and Molecular Diagnostics Ltd. | Troxler H.,University of Zrich | Dutly F.,Institute for Medical and Molecular Diagnostics Ltd. | Walker L.,Hamilton Health Sciences | And 4 more authors.
Hemoglobin | Year: 2010

We report the characterization of five novel δ-globin gene mutations detected during routine screening for thalassemia. Three missense mutations were identified, resulting in the following δ chain hemoglobin (Hb) variants: Hb A2-Acacias [δ4 (ACT>AGT), Thr→Ser, HBD c.14C>G], Hb A2-Toronto [δ74 (GGC>GAC), Gly→Asp, HBD c.224G>A], and Hb A2-Calgary [δ99 (GAT>GGT), Asp→Gly, HBD c.299A>G]. Two other mutations most likely result in δ 0-thalassemia (δ 0-thal). One mutation altered the translation initiation codon from ATG to ATA (HBD c.3G>A), and another changed the canonical splice donor sequence of IVS-II from GT to AT (HBD C.3151G>A). Copyright © 2010 Informa UK, Ltd. Source


Saller E.,Institute for Medical and Molecular Diagnostics Ltd. | Kohne E.,University of Ulm | Dutly F.,Institute for Medical and Molecular Diagnostics Ltd. | Frischknecht H.,Institute for Medical and Molecular Diagnostics Ltd.
Hemoglobin | Year: 2014

In two unrelated families, several newborns developed cyanosis within the first days of life. For all of them, consecutive arterial blood gas analyses showed a right shift of the saturation curve, suggesting the presence of a hemoglobin (Hb) variant. A new Gγ-globin variant was detected, namely Gγ105(G7)Leu → His; HBG2: c.317T > A, that we named Hb F-Brugine/Feldkirch after the place of origin of the two families. This T to A conversion results in a leucine to histidine amino acid change at codon 105 of the Gγ-globin gene and caused a Hb variant with lowered oxygen affinity. The γ to β switch proceeded normally. © 2014 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted. Source


Saller E.,Institute for Medical and Molecular Diagnostics Ltd. | Dutly F.,Institute for Medical and Molecular Diagnostics Ltd. | Frischknecht H.,Institute for Medical and Molecular Diagnostics Ltd.
Hemoglobin | Year: 2015

We describe two novel α2 gene mutations that result in an altered amino acid sequence. In case 1, the α2 stop codon was mutated from TAA>TTA (HBA2: c.428A>T), resulting in an α2 protein chain extension of 31 amino acids. The new hemoglobin (Hb) variant was named Hb Kinshasa for the place of origin of the patient. This patient was also a carrier of Hb S (HBB: c.20A>T), which was expressed at reduced levels, but had an otherwise normal blood count. For cases 2 and 3, an α2 frameshift mutation caused a premature α2 protein chain termination at position 133 (HBA2: c.342-345insCC). The phenotype of this mutation seems to be rather severe as judged by the pronounced microcytosis and hypochromia observed in case 2. In addition, the father of this patient (case 3) also carried a β0-thalassemia (β0-thal) mutation (HBB: c.118C>T). © 2015 Informa Healthcare USA, Inc. Source

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