Avery R A, Alpert E, Weigand K, Dugaiczyk A
Biochem Biophys Res Commun. 1983 Nov 15;116(3):817-21. doi: 10.1016/s0006-291x(83)80215-0.
The human serum albumin gene was analyzed by restriction endonuclease mapping of chromosomal DNA isolated from a patient with congenital analbuminemia. Following digestion with a variety of restriction endonucleases, the DNA from this individual produced the same fragments with homology to a serum albumin cDNA probe as did a control DNA specimen. Therefore, the genetic condition of congenital analbuminemia is not caused by any gross structural rearrangement or deletion of the gene itself, but may result from an abnormality in the gene's fine structure, perhaps affecting regulation or processing of the primary RNA transcript.
通过对一名先天性无白蛋白血症患者分离的染色体DNA进行限制性内切酶图谱分析,对人血清白蛋白基因进行了研究。在用多种限制性内切酶消化后,该个体的DNA与血清白蛋白cDNA探针产生的同源片段,与对照DNA样本相同。因此,先天性无白蛋白血症的遗传状况并非由基因本身的任何明显结构重排或缺失引起,而可能是由基因精细结构的异常导致的,这可能影响初级RNA转录本的调控或加工。