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Molecular evidence of triplication in the haptoglobin Johnson variant gene.

The protein and gene structure of the Hp Johnson variant (Hp3) were analyzed in two related heterozygous individuals. The molecular weight (23 kd) 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.

Amino Acid Sequence↗

Haptoglobin subtypes in northern Germany (Hamburg).

The distribution of the Hp subtypes (investigated by isoelectric focusing) in 1725 unrelated adults from Hamburg and surrounding areas is reported. Allelic frequencies: HP*1F = 0.1466, HP*1S = 0.2466, HP*2FF = 0.0040, HP*2FS = 0.5724, HP*2SS = 0.0301. The exclusion efficiency in 230 paternity cases is discussed.

Adult↗