Kallunki P, Eddy R L, Byers M G, Kestilä M, Shows T B, Tryggvason K
Biocenter, University of Oulu, Finland.
Genomics. 1991 Oct;11(2):389-96. doi: 10.1016/0888-7543(91)90147-7.
We have isolated a cDNA coding for the core protein of the large basement membrane heparan sulfate proteoglycan (HSPG) from a human fibrosarcoma cell (HT1080) library. The library was screened with a mouse cDNA probe and one clone obtained, with a 1.5-kb insert, was isolated and sequenced. The sequence contained an open reading frame coding for 507 amino acid residues with a 84% identity to the corresponding mouse sequence. This amino acid sequence contained several cysteine-rich internal repeats similar to those found in component chains of laminin. The HSPG cDNA clone was used to assign the gene (HSPG2) to the p36.1----p35 region of chromosome 1 using both somatic cell hybrid and in situ hybridization. In the study of the polymorphisms of the locus, a BamHI restriction fragment length polymorphism was identified in the gene. This polymorphism displayed bands of 23 and 12 kb with allele frequencies of 76 and 24%, respectively.
我们从人纤维肉瘤细胞（HT1080）文库中分离出一个编码大基底膜硫酸乙酰肝素蛋白聚糖（HSPG）核心蛋白的cDNA。用小鼠cDNA探针筛选该文库，获得一个插入片段为1.5 kb的克隆，并对其进行分离和测序。该序列包含一个编码507个氨基酸残基的开放阅读框，与相应的小鼠序列具有84%的同一性。该氨基酸序列包含几个富含半胱氨酸的内部重复序列，类似于层粘连蛋白组成链中的重复序列。利用体细胞杂交和原位杂交技术，将HSPG cDNA克隆用于将基因（HSPG2）定位到染色体1的p36.1----p35区域。在该位点的多态性研究中，在基因中鉴定出一种BamHI限制性片段长度多态性。这种多态性显示出23 kb和12 kb的条带，等位基因频率分别为76%和24%。
