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Analysis of the Hb M Milwaukee mutation at the DNA level
Author(s) -
Horst J.,
Schäfer R.,
Kleihauer E.,
Kohne E.
Publication year - 1983
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1983.tb02144.x
Subject(s) - mutation , genetics , dna , microbiology and biotechnology , medicine , biology , gene
S ummary . Restriction endonuclease mapping of cellular DNA with the enzyme Sst I has been used to detect the haemoglobin (Hb) Milwaukee mutation directly. Instead of a normal 15.5 kilobase pairs (kb) fragment which contains the normal β‐globin structural genes, in heterozygous Hb M Milwaukee DNA two 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 β‐globin gene region could be established.