DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian ?-globin gene
- 1 September 1983
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 64 (3) , 263-266
- https://doi.org/10.1007/bf00279406
Abstract
Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian β-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the Gγ-globolin gene and its absence in the Aγ-globolin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.This publication has 21 references indexed in Scilit:
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