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骨髓增生异常综合征患儿中TP53和FMS基因突变的缺失

Lack of TP53 and FMS gene mutations in children with myelodysplastic syndrome.

作者信息

Jekic Biljana, Novakovic Ivana, Lukovic Ljiljana, Kuzmanovic Milos, Popovic Branka, Milasin Jelena, Bunjevacki Gordana, Damnjanovic Tatjana, Cvjeticanin Suzana, Bunjevacki Vera

机构信息

Institute of Biology and Human Genetics, School of Medicine, 26 Visegradska Str., 11000 Belgrade, Serbia and Montenegro.

出版信息

Cancer Genet Cytogenet. 2006 Apr 15;166(2):163-5. doi: 10.1016/j.cancergencyto.2005.11.003.

DOI:10.1016/j.cancergencyto.2005.11.003
PMID:16631474
Abstract

Myelodysplastic syndromes (MDS) are rare disorders in children. Molecular mechanisms underlying MDS in children are not yet completely understood. Considering the role of FMS and TP53 gene mutations in adult MDS patients, we analyzed mutations of these genes in a cohort of 35 children with MDS. Single-strand conformation polymorphism polymerase chain reaction analysis performed on FMS codon 969 and TP53 exons 5-9 showed no mutations in the analyzed sequences. Our results suggest that molecular mechanisms of MDS evolution in children are different from those in adults.

摘要

骨髓增生异常综合征(MDS)在儿童中是罕见疾病。儿童MDS的分子机制尚未完全明确。鉴于FMS和TP53基因突变在成年MDS患者中的作用,我们分析了35例儿童MDS患者队列中这些基因的突变情况。对FMS密码子969和TP53基因外显子5 - 9进行的单链构象多态性聚合酶链反应分析显示,所分析序列中无突变。我们的结果表明,儿童MDS演变的分子机制与成人不同。

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Lack of TP53 and FMS gene mutations in children with myelodysplastic syndrome.骨髓增生异常综合征患儿中TP53和FMS基因突变的缺失
Cancer Genet Cytogenet. 2006 Apr 15;166(2):163-5. doi: 10.1016/j.cancergencyto.2005.11.003.
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[N-ras and fms gene mutation in idiopathic thrombocytopenic purpura and myelodysplasia].特发性血小板减少性紫癜和骨髓增生异常综合征中的N-ras和fms基因突变
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Low frequency of NRAS and KRAS2 gene mutations in childhood myelodysplastic syndromes.儿童骨髓增生异常综合征中NRAS和KRAS2基因突变的低频率
Cancer Genet Cytogenet. 2004 Oct 15;154(2):180-2. doi: 10.1016/j.cancergencyto.2004.02.025.
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P53 mutation in advanced stage of primary myelodysplastic syndrome.
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Oncogene. 1991 Dec;6(12):2243-7.
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NRAS, FLT3 and TP53 mutations in patients with myelodysplastic syndrome and a del(5q).伴有5号染色体长臂缺失(del(5q))的骨髓增生异常综合征患者中的NRAS、FLT3和TP53基因突变
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Two new polymorphisms but no mutations of the KIT gene in patients with myelodysplasia at positions corresponding to human FMS and murine W locus mutational hot spots.骨髓增生异常综合征患者中,KIT基因在对应于人类FMS和小鼠W位点突变热点的位置出现两个新的多态性,但无突变。
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Genetic aberrations in the development and subsequent progression of myelodysplastic syndrome.骨髓增生异常综合征发生发展及后续进展过程中的基因畸变
Leukemia. 1997 Apr;11 Suppl 3:533-5.

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