Analysis of the Hb M Milwaukee mutation at the DNA level
- 1 August 1983
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 54 (4), 643-648
- https://doi.org/10.1111/j.1365-2141.1983.tb02144.x
Abstract
Restriction endonuclease mapping of cellular DNA with the enzyme Sst I was used to detect the Hb Milwaukee mutation directly. Instead of a normal 15.5 kilobase pairs (kb) fragment which contains the normal .beta.-globin structural genes, in heterozygous Hb M Milwaukee DNA 2 additional fragments of 9.0 kb and 6.5 kb were obtained that are diagnostic for this anomaly. The position of Sst I sites within the .beta.-globin gene region could be established.This publication has 18 references indexed in Scilit:
- Improved Detection of the Sickle Mutation by DNA AnalysisNew England Journal of Medicine, 1982
- A Sensitive New Prenatal Test for Sickle-Cell AnemiaNew England Journal of Medicine, 1982
- The nucleotide sequence of the human β-globin geneCell, 1980
- γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in manNature, 1980
- Characterisation of deletions which affect the expression of fetal globin genes in manNature, 1979
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975
- Some observations on the properties of hemoglobin MMilwaukee-1Journal of Molecular Biology, 1970
- Properties of hemoglobin M, milwaukee-1 variant and its unique characteristicBiochimica et Biophysica Acta (BBA) - Protein Structure, 1969
- Über chronische familiäre Methämoglobinämie und eine neue Modifikation des Methämoglobins1Deutsche Medizinische Wochenschrift (1946), 1948