Hemoglobin Pasadena: identification of the gene mutant by DNA analysis using synthetic DNA probes.

Abstract

Hemoglobin Pasadena [beta 75(E19)Leu----Arg] was found in a boy who had an acute episode of anemia and rapid splenic enlargement. His father was the only other member of a large family with this hemoglobinopathy. We have used gene mapping techniques for direct identification of the beta-globin gene mutation. To correlate the DNA findings with the structural identification of this variant, we have also performed globin chain separation and analysis of the tryptic peptides using high performance liquid chromatography and secondary ion mass spectral analysis.

• Authors: S Rahbar, R Rosen, G Nozari, T D Lee, Y Asmerom, R B Wallace
• Journal: American journal of hematology (Am J Hematol) Vol. 27 Issue 3 Pg. 204-8 (Mar 1988) ISSN: 0361-8609 [Print] United States
• PMID: 3348204 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Pasadena
• DNA

Topics

• Adult
• Child
• Chromatography, High Pressure Liquid
• DNA (analysis, chemical synthesis)
• Genes
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Mass Spectrometry
• Mutation