Analysis of the Hb M Milwaukee mutation at the DNA level.

doi:10.1111/j.1365-2141.1983.tb02144.x

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Analysis of the Hb M Milwaukee mutation at the DNA level.

J J Horst, R R Schäfer, E E Kleihauer and E E Kohne Br J Haematol 54(4):643-8 (1983) PMID 6307336

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 beta-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 beta-globin gene region could be established.

DOI: 10.1111/j.1365-2141.1983.tb02144.x
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