Rives Susana, Pahl Heike L, Florensa Lourdes, Bellosillo Beatriz, Neusuess Andrea, Estella Jesus, Debatin Klaus-Michael, Kohne Elisabeth, Schwarz Klaus, Cario Holger
Department of Pediatric Hematology and Oncology, Hospital Sant Joan de Déu, Barcelona, Spain.
Haematologica. 2007 May;92(5):674-7. doi: 10.3324/haematol.10787.
Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G->A (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the EPOR 1414C->G (Tyr426Stop) mutation. JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis.
促红细胞生成素受体（EPOR）基因的显性突变仅占原发性先天性红细胞增多症病例的约15%。为了寻找这种疾病患者的分子改变。对16例促红细胞生成素（Epo）<10 mU/mL的患者进行了研究，其中3例有亲属关系。分析包括EPOR和JAK2基因测序、定量PRV-1逆转录聚合酶链反应（RT-PCR）以及红系集落测定。检测到一种新的散发性EPOR 1453G→A（Trp439Stop）突变。所有家族性病例的表型各不相同，均存在EPOR 1414C→G（Tyr426Stop）突变。JAK2突变不参与原发性先天性红细胞增多症的发病机制。
