Kao F T, Hawkins J W, Law M L, Dugaiczyk A
Hum Genet. 1982;62(4):337-41. doi: 10.1007/BF00304551.
Albumin is a developmentally regulated serum protein synthesized in the liver mainly during adulthood. Family studies using variant forms of albumin established autosomal linkage between albumin and group-specific component protein (GS). Since GC has been assigned to human chromosome 4, albumin can be indirectly assigned to the same chromosome; however no direct assignment has been made. Recently, the human albumin cDNA probe has been isolated and characterized. It thus permits a direct chromosomal assignment of the albumin gene in the human genome. When the cDNA probe was hybridized to the HindIII digested total human DNA, an intense band at 6.8 kb was present. When the probe was hybridized to the HindIII digested Chinese hamster CHO-K1 DNA, a less intense band at 3.5 kb was found, plus three other faint bands. When the probe was hybridized to a series of human/CHO-K1 cell hybrids retaining a complete hamster genome and various combinations of human chromosomes, it was evident that hybrids containing human albumin gene sequences could be readily distinguished from hybrids containing no human albumin gene. Analysis of 22 primary cell hybrids for the presence or absence of human albumin sequences has assigned the albumin gene to human chromosome 4. Similar results were obtained using another restriction endonuclease EcoR1. Thus, by direct assay of the genomic albumin gene sequences in the cell hybrids, we provide evidence for a direct assignment of the structural gene for human albumin to chromosome 4.
白蛋白是一种在发育过程中受调控的血清蛋白,主要在成年期由肝脏合成。利用白蛋白变异形式进行的家族研究确定了白蛋白与群体特异性成分蛋白(GS)之间的常染色体连锁关系。由于GC已被定位到人类4号染色体,白蛋白可间接定位到同一条染色体;然而,尚未进行直接定位。最近,人类白蛋白cDNA探针已被分离和鉴定。因此,它允许在人类基因组中对白蛋白基因进行直接染色体定位。当cDNA探针与经HindIII消化的人类总DNA杂交时,在6.8 kb处出现一条强带。当探针与经HindIII消化的中国仓鼠CHO-K1 DNA杂交时,在3.5 kb处发现一条较弱的带,外加另外三条 faint带。当探针与一系列保留完整仓鼠基因组和各种人类染色体组合的人类/CHO-K1细胞杂交体杂交时,很明显,含有人类白蛋白基因序列的杂交体可以很容易地与不含有人类白蛋白基因的杂交体区分开来。对22个原代细胞杂交体进行人类白蛋白序列有无分析,已将白蛋白基因定位到人类4号染色体。使用另一种限制性内切酶EcoR1也获得了类似的结果。因此,通过直接检测细胞杂交体中的基因组白蛋白基因序列,我们为将人类白蛋白结构基因直接定位到4号染色体提供了证据。