首页   按字顺浏览 期刊浏览 卷期浏览 A third instance of the high oxygen affinity variant, HB heathrow [β103(G5)phe→leu]: Id...
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.

 

点击下载:  PDF (348KB)



返 回