A third instance of the high oxygen affinity variant, HB heathrow [β103(G5)phe→leu]: Identification of the mutation by mass spectrometry and by DNA analysis
作者:
MarshG.,
MarinoG.,
PucciP.,
FerrantiP.,
MalorniA.,
KaedaJ.,
MarshJ.,
LuzzattoL.,
期刊:
Hemoglobin
(Taylor Available online 1991)
卷期:
Volume 15,
issue 1-2
页码: 43-51
ISSN:0363-0269
年代: 1991
DOI:10.3109/03630269109072483
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Hb. Heathrow [β103(G5)Phe→Leu] was identified in an Englishman with a life-long history of polycythemia, his father had been similarly affected. A hemoglobin variant was suspected from the high oxygen affinity of the patient's blood. The Hb Heathrow abnormalβchain was resolved from the normalβchain by high performance liquid chromatography, and the abnormal peptide and the amino acid replacement were identified by mass spectrometry. The corresponding base change (C→G at codon 103) was demonstrated by sequence analysis of the polymerase chain reaction amplified exon 2 of the genomicβ-globin gene. This is only the third known instance of Hb Heathrow.
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