HB F‐Yamaguchi (γ75THR, γ80ASN, γ136ALA) is associated with  G γ‐thalassemia | Zendy

Nakatsuji T. | Zendy; Ohba Y. | Zendy; Huisman T. H. J. | Zendy

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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.

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