Horst J, Oehme R, Epplen J T, Kohne E
Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
Hum Genet. 1988 Jun;79(2):172-4. doi: 10.1007/BF00280559.
The molecular defect leading to Haemoglobin (Hb) Freiburg has been analysed using synthetic oligonucleotides. Oligonucleotide probes 19 residues and 16 residues long, corresponding to the normal and mutant beta-globin gene sequences, respectively, were used to develop a direct assay for the beta F-globin gene, which codes for an unstable haemoglobin. Under the conditions described here the use of the respective synthetic oligonucleotides should aid in the determination of all Hb Freiburg genotypes in families at risk with a high level of confidence.
已使用合成寡核苷酸对导致血红蛋白（Hb）弗赖堡病的分子缺陷进行了分析。分别对应于正常和突变β-珠蛋白基因序列的19个残基和16个残基长的寡核苷酸探针，被用于开发一种针对βF-珠蛋白基因的直接检测方法，该基因编码一种不稳定的血红蛋白。在本文所述条件下，使用各自的合成寡核苷酸应有助于以高置信度确定有风险家庭中所有Hb弗赖堡病的基因型。
