Davies K A, Lorand L, Waterfield M, Wainwright B, Farrall M, Williamson R
Department of Biochemistry, St. Mary's Hospital Medical School, London, UK.
Hum Genet. 1987 Oct;77(2):122-6. doi: 10.1007/BF00272377.
A peptide prepared from purified factor 13B (F13B) was sequenced, and a single, long oligonucleotide corresponding to its cognate DNA sequence was constructed and used to screen a chromosome 7 specific genomic library. The positive clone isolated, designated pKV13, was only related to F13B at the oligonucleotide region, but has proved to be a valuable chromosome 7 marker. pKV13 maps to 7pter-q22 in hybrid cell lines, and is present in a chromosome-mediated gene transfer (CMGT) cell line that also contains met and other 7q probes. pKV13 defines a common MspI restriction fragment length polymorphism (RFLP), and is genetically linked to two markers on the long arm of chromosome 7, B79a and COLIA2, both themselves linked to the cystic fibrosis locus. Multipoint linkage analysis demonstrates that KV13 maps centromeric to both B79a and COLIA2. pKV13 has been used to demonstrate the existence of rearrangements within CMGT hybrids, and will also prove valuable in multipoint linkage studies of other 7q markers. Finally, pKV13 provides a new polymorphic locus for the characterisation of 7q deletions in myeloid disorders such as myelodysplastic syndrome.
对从纯化的因子13B(F13B)制备的一种肽进行了测序,并构建了一个与其同源DNA序列相对应的单一长寡核苷酸,用于筛选7号染色体特异性基因组文库。分离出的阳性克隆命名为pKV13,它仅在寡核苷酸区域与F13B相关,但已被证明是一种有价值的7号染色体标记。在杂交细胞系中,pKV13定位于7pter-q22,并且存在于一个染色体介导的基因转移(CMGT)细胞系中,该细胞系还含有met和其他7q探针。pKV13定义了一种常见的MspI限制性片段长度多态性(RFLP),并且在遗传上与7号染色体长臂上的两个标记B79a和COLIA2连锁,这两个标记本身又与囊性纤维化基因座连锁。多点连锁分析表明,KV13定位于B79a和COLIA2的着丝粒侧。pKV13已被用于证明CMGT杂种中重排的存在,并且在其他7q标记的多点连锁研究中也将被证明是有价值的。最后,pKV13为诸如骨髓增生异常综合征等髓系疾病中7q缺失的特征化提供了一个新的多态性位点。