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Molecular evidence of triplication in the haptoglobin Johnson variant gene |
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| Authors: | Salvatore Oliviero Mario DeMarchi Angelo O Carbonara Luigi F Bernini Giuliano Bensi Giovanni Raugei |
| Institution: | (1) Istituto di Genetica medica, Via Santena 19, 10126 Torino, Italy;(2) CNR Centro Immunogenetica ed Istocompatibilitá, Via Santena 19, 10126 Torino, Italy;(3) State University Department of Human Genetics, Wassenasserweg 72, Leiden, The Netherlands;(4) European Molecular Biology Laboratory, Meyerofsstrasse 1, D-6900 Heidelberg, Federal Republic of Germany |
| Abstract: | Summary The protein and gene structure of the Hp Johnson variant (Hp3) were analyzed in two related heterozygous individuals. The molecular weight (23kd) and amino acid composition of Hp3 alpha chain were in agreement with the triplicated structure first suggested by Smithies in 1964. Direct gene analysis by Southern blotting showed a three-fold tandem repeat of the same 1.7 kb DNA segment implicated in the Hp2 gene duplication. On the basis of these data a nine exon model for the Hp3 gene is proposed. |
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