利用侧翼DNA标记对冯·希佩尔-林道病进行症状前诊断。
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
作者信息
Maher E R, Bentley E, Payne S J, Latif F, Richards F M, Chiano M, Hosoe S, Yates J R, Linehan M, Barton D E
机构信息
Cambridge University, Department of Pathology.
出版信息
J Med Genet. 1992 Dec;29(12):902-5. doi: 10.1136/jmg.29.12.902.
Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterised by the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. The gene for VHL disease has been mapped to chromosome 3p25-p26 and flanking markers identified. We have investigated the usefulness of currently available DNA markers for the presymptomatic diagnosis of VHL disease. In the first part of this investigation, genetic linkage data from two previously published studies were updated and reanalysed to provide accurate estimates of sex specific recombination fractions and to confirm that there is no evidence of locus heterogeneity. In the second part of this study, 14 families containing 23 asymptomatic subjects at 50% prior risk of VHL disease were investigated with closely linked DNA markers (RAF1, D3S18, D3S732). Seventeen subjects were informative with one or more markers, six of whom were informative at markers flanking the VHL disease gene. By combining age related and DNA based risk information the carrier risk for 11 subjects was reduced to < 2%.
冯·希佩尔-林道（VHL）病是一种显性遗传的癌症综合征，其特征为视网膜、小脑和脊髓血管母细胞瘤、肾细胞癌以及嗜铬细胞瘤的发生。VHL病的基因已被定位到3号染色体的p25 - p26区域，并确定了侧翼标记。我们研究了当前可用的DNA标记对VHL病进行症状前诊断的实用性。在本研究的第一部分，对两项先前发表研究中的遗传连锁数据进行了更新和重新分析，以提供性别特异性重组率的准确估计，并确认没有基因座异质性的证据。在本研究的第二部分，使用紧密连锁的DNA标记（RAF1、D3S18、D3S732）对14个家庭进行了调查，这些家庭中有23名无症状个体，其患VHL病的风险为50%。17名个体对一个或多个标记有信息，其中6名个体对VHL病基因侧翼的标记有信息。通过结合年龄相关和基于DNA的风险信息，11名个体的携带者风险降低至<2%。
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