A 3RD INSTANCE OF THE HIGH OXYGEN-AFFINITY VARIANT, HB HEATHROW [BETA-103(G5)PHE-GREATER-THAN-LEU] - IDENTIFICATION OF THE MUTATION BY MASS-SPECTROMETRY AND BY DNA ANALYSIS

被引：16

作者：

MARSH, G

MARINO, G

PUCCI, P

FERRANTI, P

MALORNI, A

KAEDA, J

MARSH, J

LUZZATTO, L

机构：

[1] NAPLES UNIV,CNR,CTR MASS SPECTROMETRY FACILITIES,ICMIB,I-80138 NAPLES,ITALY

[2] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON W12 0NN,ENGLAND

来源：

HEMOGLOBIN | 1991年 / 15卷 / 1-2期

基金：

英国医学研究理事会;

关键词：

D O I：

10.3109/03630269109072483

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Hb. Heathrow [beta-103(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 abnormal beta-chain was resolved from the normal beta-chain 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 genomic beta-globin gene. This is only the third known instance of Hb Heathrow.

引用

页码：43 / 51

页数：9

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