Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype.
Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype.
复制标题
DOI：
--
复制
发表时间：
1986-07
影响因子：
9.8
通讯作者：
J. Overhauser;M. Golbus;S. Schonberg;J. Wasmuth
中科院分区：
文献类型：
--
作者：
J. Overhauser;M. Golbus;S. Schonberg;J. Wasmuth
一个5号染色体短臂间质性明显不平衡缺失的家系在3代中有6个个体。值得注意的是，所有缺失的个体都完全没有症状，没有表现出身体或精神异常。通过鉴定定位在5号染色体缺失部分内的DNA探针，在分子水平上证实了缺失。通过使用体细胞杂交和定量Southern印迹，我们证明了这些个体确实具有不平衡的缺失，并且在5p14中对于数百万个碱基对的DNA是单倍体，而没有显示出任何可辨别的表型。
A family has been identified in which an interstitial, apparently unbalanced deletion of the short arm of chromosome 5 could be traced through six individuals in 3 generations. Remarkably, all of the individuals with the deletion are completely asymptomatic and show no physical or mental abnormalities. The deletion was confirmed at the molecular level by identifying DNA probes that mapped within the deleted portion of chromosome 5. Through the use of somatic cell hybrids and quantitative Southern blots, we demonstrated that these individuals do indeed have an unbalanced deletion and are haploid for several million base pairs of DNA in 5p14 without showing any discernable phenotype.