Tecuceanu N, Dardik R, Rabizadeh E, Raanani P, Inbal A
Thrombosis and Haemostasis Unit, Beilinson Hospital, Rabin Medical Centre, Petah Tikva, Israel.
Br J Haematol. 2006 Nov;135(3):348-51. doi: 10.1111/j.1365-2141.2006.06316.x. Epub 2006 Sep 22.
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.
遗传性血小板增多症（HT）是一种遗传性常染色体显性疾病。最近的研究报道了六个不同的突变，在六个不相关的HT家族中，四个位于血小板生成素（TPO）基因内，两个位于c-Mpl（TPO受体）基因内。本研究调查了一个以色列犹太家族中遗传性血小板增多症的分子基础。我们通过对包括外显子/内含子边界和启动子在内的所有相应外显子进行扩增和测序，来筛选TPO和c-Mpl基因。此外，还测量了血浆中TPO和促红细胞生成素（EPO）的水平。在受影响的HT家族成员中未发现TPO/c-Mpl基因有异常。在受影响的个体中，发现血浆TPO和EPO水平分别正常/偏低或正常。总之，TPO或cMpl基因内缺乏分子病变表明，在这个家族中HT可能由TPO-cMpl轴以外的因素引起。
