A haptoglobin Johnson family with nonhypohaptoglobinaemic HpJ-Hp2.


Haptoglobin 2-1 (Johnson), a rare phenotype of the haptoglobin serum groups, was described by Giblett (1959) in its heterozygous form. On starch gel electrophoresis it differed from the common Hp 2-1 phenotype, in two ways: its two fastest bands were doubled, and there was retardation of all the bands representing polymeric haptoglobin molecules in the starch gel electrophoresis. The cause of these differences is likely to be seen in the modification of Hp2 allele, representing a triplication formed by unequal homologous crossing over in a homozygote Hp2/Hp2 during displaced synapsis. This was suggested by Smithies, Connell, and Dixon (1962) because of the presence of normal hp lSa and slower migrating hp 2Ja polypeptide chains. Parker and Beam (1963) regard the Hp 2-1 (Johnson) phenotype as a product of three independent alleles producing Hp units with different charges. Ramot, Kende, and Arnon (1962) described a Kurdish pedigree, in which Hp 2-1 (Johnson) and Hp 2-1 mating produced children: Hp 1-1, Hp 2-1, Hp 2-1 (Johnson), and three children with severe hypohaptoglobinaemia, the latter being presumably products of genotypes

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@article{Pintera1969AHJ, title={A haptoglobin Johnson family with nonhypohaptoglobinaemic HpJ-Hp2.}, author={Jan Pintera and Ryan Dvorak and J. Vacl and J{\'o}zsef Fiser}, journal={Journal of medical genetics}, year={1969}, volume={6 2}, pages={187-9} }