| First Author | Jones J | Year | 1991 |
| Journal | Biochem Genet | Volume | 29 |
| Issue | 11-12 | Pages | 617-26 |
| PubMed ID | 1820025 | Mgi Jnum | J:1770 |
| Mgi Id | MGI:50294 | Doi | 10.1007/BF02426875 |
| Citation | Jones J, et al. (1991) The molecular characterization of an A:T to G:C transition in the Hbb-b1 gene of the murine homologue of hemoglobin Rainier. Biochem Genet 29(11-12):617-26 |
| abstractText | An N-ethyl-N-nitrosourea (ENU)-induced mutation in the Hbb-b1 gene of the mouse hemoglobin-beta complex (Hbb) has been shown to result in a high-oxygen affinity hemoglobin, homologous with hemoglobin Rainier in man (Peters, J., et al., Genetics 110:709, 1985). Substitution of beta 145 tyrosine by cysteine had occurred in both human and mouse forms, probably as the result of a point mutation. Provided that sufficient sequence information is available, point mutations can be directly and rapidly analyzed by allele-specific amplification (ASA), as this technique is sensitive enough to detect single nucleotide differences. We report the use of ASA to detect and characterize the mutation in the murine beta-globin gene, Hbb-b1d-m1, and find that the codon for beta 145 tyrosine (TAC) has been replaced by the codon for cysteine (TGC). Therefore, ENU induced an A:T----G:C transition. |
