Publications by authors named "Rianne A C Schaap"
Article Synopsis
- The use of multiplex ligation-dependent probe amplification (MLPA) has enabled the discovery of new deletions related to thalassemia, providing insights into the molecular mechanisms behind these genetic changes.
- A custom fine-tiling array was created to analyze DNA samples, showing that array comparative genomic hybridization (aCGH) is effective for detecting both small and large genetic rearrangements.
- The combination of MLPA and aCGH has resulted in cost-effective PCR assays that offer laboratories an alternative method for identifying specific thalassemia-related deletions in certain populations.
Alpha-thalassemia is an inherited hemoglobin disorder characterized by a microcytic hypochromic anemia caused by a quantitative reduction of the alpha-globin chain. The majority of the alpha-thalassemias is caused by deletions in the alpha-globin gene cluster. A deletion in the alpha-globin gene cluster, which was found in a Dutch family, was characterized by MLPA, long-range PCR and direct sequencing.
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