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HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia.
Restriction endonuclease and 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 gamma genes. This abnormality is similar to the G gamma-thalassemia described recently [4] and is probably caused by an unequal crossing over between-G gamma- and -A gamma T-genes. The abnormal-G gamma A gamma T-X-(X = Asp leads to Asn at gamma 80) hybrid gene produces the gamma-Yamaguchi chain at a level usually seen for G gamma chains only.
PMID: 6198905 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma.
Powers PA, Altay C, Huisman TH, Smithies O.
Nucleic Acids Res. 1984 Sep 25; 12(18):7023-34.
[Nucleic Acids Res. 1984]
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Abnormal arrangements in the alpha- and gamma-globin gene clusters in a relatively large group of Japanese newborns.
Shimizu K, Harano T, Harano K, Miwa S, Amenomori Y, Ohba Y, Kutlar F, Huisman TH.
Am J Hum Genet. 1986 Jan; 38(1):45-58.
[Am J Hum Genet. 1986]