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背景:近年来研究表明视网膜母细胞瘤(retinoblastoma,RB)的发生和病变的进展除了与已知的Rb1基因有相关性外,可能还有其他抑癌基因的参与。目的:探讨其他可能参与RB发生发展的基因存在的位点,并试图寻找和确定具有监测及预后价值的杂合性缺失(LOH)检测指标。设计:以RB患者为研究对象的病例分析。单位:一所军医大学医院的基因诊断治疗中心。对象:本研究在第三军医大学西南医院基因诊断治疗中心完成,研究对象为1998-05/2001-10在本校三所附属医院门诊就诊的RB患者16例。纳入标准:符合RB诊断标准的年龄小于3岁的患儿;排除标准:有家族遗传史者。其中男10例,女6例;累及双眼者12例,累及单眼者4例。方法:在患者的RB肿瘤及外周血标本中运用荧光聚合酶链反应(PCR)分别扩增13号染色体上14个微卫星DNA标记,分析测定各位点LOH发生率;同时通过家系分析确定位点缺失的遗传学来源。主要观察指标:患者13号染色体上LOH发生频率。结果:16例RB患者中,12例在13号染色体上1个或1个以上位点发生LOH。其中3个位点D13S265、D13S263和D13S153(位于Rb1基因内)LOH发生机率最高。12个LOH阳性标本中有10个位点的缺失被确定发生在父系来源的染色体中。LOH阳性及阴性组RB的确诊时间分别为504和1086d,两组相比差异具有显著性意义(t=2.357
BACKGROUND: In recent years, studies have shown that the development of retinoblastoma (RB) and the progression of the disease may be related to the known Rb1 gene, and other tumor suppressor genes may also be involved. OBJECTIVE: To explore the existence of other genes that may be involved in the development of RB, and to find and determine the detection index of loss of heterozygosity (LOH) with monitoring and prognostic value. Design: case analysis of RB patients. Unit: a gene diagnosis and treatment center of a military hospital. PARTICIPANTS: This study was performed at the Gene Diagnostic and Treatment Center of Southwest Hospital, Third Military Medical University. The object of study was 16 patients with RB who were treated in three affiliated hospitals of our hospital from May 1998 to October 2001. Inclusion criteria: children under the age of 3 years who meet the RB diagnostic criteria; Exclusion criteria: a family history. Including 10 males and 6 females; 12 cases involving both eyes, involving 4 cases of monocular. Methods: Fourteen microsatellite DNA markers on chromosome 13 were amplified by polymerase chain reaction (PCR) in patients with RB tumor and peripheral blood samples. The incidence of LOH at each locus was analyzed and analyzed. At the same time, the loci were determined by pedigree analysis Lack of genetic origin. MAIN OUTCOME MEASURES: The frequency of LOH on chromosome 13. Results: Of the 16 patients with RB, 12 developed LOH at one or more sites on chromosome 13. The three loci D13S265, D13S263 and D13S153 (located in the Rb1 gene) LOH the highest probability. Ten of 12 LOH-positive specimens were confirmed to have deletions in the paternal-derived chromosome. The diagnostic time of RB in the positive and negative LOH groups was 504 and 1086 days, respectively, with significant difference between the two groups (t = 2.357