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HB F‐Yamaguchi (γ75THR, γ80ASN, γ136ALA) is associated with G γ‐thalassemia
Author(s) -
Nakatsuji T.,
Ohba Y.,
Huisman T. H. J.
Publication year - 1984
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830160212
Subject(s) - thalassemia , restriction enzyme , genetics , heterozygote advantage , gene , biology , abnormality , microbiology and biotechnology , medicine , genotype , psychiatry
Restriction endonuclease analyses of DNA from a known Hb F‐Yamaguchi heterozygote and three of his relatives have shown a deletion of about 5 kb, which includes one of the γ genes. This abnormality is similar to the G γ‐thalassemia described recently [4] and is probably caused by an unequal crossing over between ‐ G γ‐ and ‐ A γ T ‐genes. The abnormal ‐ G γ A γ T‐X ‐ (X = Asp→Asn at γ80) hybrid gene produces the γ‐Yamaguchi chain at a level usually seen for G γ chains only.