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Electrophoretic detection of the haptoglobin polymorphism at the DNA level
Author(s) -
David Fabrice,
Lavadera Sandra,
Lucotte Gérard
Publication year - 1986
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.1150071207
Subject(s) - genotype , restriction fragment length polymorphism , microbiology and biotechnology , biology , genetics , haptoglobin , gene duplication , polymorphism (computer science) , point mutation , southern blot , cleaved amplified polymorphic sequence , gene , mutation , immunology
Direct gene analysis of the haptogobin (Hp) polymorphism was carried out by Southern blotting using an Hp cDNA probe. Two types of polymorphism were observed: the first, after Eco RI, Hin dIII and Pst I digestion, is due to an intragenic duplication and corresponds to the Hp‐α protein polymorphism; the second type, due to point mutation, was represented by two additional restriction sites for Eco RI and Pst I. The univocal correspondence between the first type fragment length variants and protein polymorphism of the duplication type permits the establishment of the genotype at the DNA level, and mutational variants of the second type add new markers; the method described here also permits detection of the real genotype of Hp0 alleles.