Overhauser J, Beaudet A L, Wasmuth J J
Am J Hum Genet. 1986 Nov;39(5):562-72.
A series of somatic cell hybrids that retain abnormal chromosomes 5 from 11 different persons with deletions or translocations involving 5p have been isolated. One hundred twenty DNA fragments isolated from a genomic library enriched for sequences from 5p were regionally localized by Southern blot analysis of the hybrid cell deletion mapping panel, including five DNA fragments that reveal restriction fragment length polymorphisms. The fine structure physical map of 5p together with the identification of additional polymorphic loci will facilitate the construction of a complete linkage map of this region. In addition, DNA fragments localized to a region near the 5p15.2-5p15.3 border, which appears to be the segment of 5p that is critical in producing the phenotype associated with the cri du chat syndrome when it is rendered hemizygous by deletion, will be useful in a molecular and DNA level analysis of this deletion syndrome.
已分离出一系列体细胞杂种，这些杂种保留了来自11个不同个体的异常5号染色体，这些个体存在涉及5p的缺失或易位。从富含5p序列的基因组文库中分离出的120个DNA片段，通过对杂交细胞缺失定位板进行Southern印迹分析进行区域定位，其中包括5个显示限制性片段长度多态性的DNA片段。5p的精细结构物理图谱以及其他多态性位点的鉴定将有助于构建该区域的完整连锁图谱。此外，定位于5p15.2 - 5p15.3边界附近区域的DNA片段，当该区域通过缺失变为半合子时，似乎是5p中对产生与猫叫综合征相关表型至关重要的片段，这将有助于对这种缺失综合征进行分子和DNA水平的分析。
