A family with hereditary thrombocythaemia and normal genes for thrombopoietin and c-Mpl |
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Authors: | Tecuceanu N Dardik R Rabizadeh E Raanani P Inbal A |
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Affiliation: | Thrombosis and Haemostasis Unit, Beilinson Hospital, Rabin Medical Centre, Petah Tikva, Israel. |
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Abstract: | Hereditary thrombocythaemia (HT) is an inherited autosomal dominant disorder. Recent studies reported six different mutations, four within the thrombopoietin (TPO) gene and two within c-Mpl (TPO receptor) gene in six unrelated families with HT. This study investigated the molecular basis of hereditary thrombocythaemia in an Israeli-Jewish family. We screened the genes for TPO and c-Mpl by amplification and sequencing of all the corresponding exons including exon/intron boundaries and promoters. In addition, plasma levels of TPO and erythropoietin (EPO) were measured. No abnormality in the TPO/c-Mpl genes has been identified in affected HT family members. Plasma TPO and EPO levels were found to be normal/low or normal respectively in the individuals affected. In conclusion, lack of a molecular lesion within either TPO or cMpl genes indicate that HT may be caused by factors other than TPO-cMpl axis in this family. |
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Keywords: | thrombopoietin c-Mpl hereditary thrombocythaemia |
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