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HB City of Hope [β69(E13)GLY→SER] in Italy: Association of the Gene with Haplotype IX

 

作者: AngiolettiM. De,   MaglioneG.,   FerrantiP.,   BonisC. de,   LacerraG.,   ScaralloA.,   PaganoL.,   FiorettiG.,   CutoloR.,   MalorniA.,   PucciP.,   CarestiaC.,  

 

期刊: Hemoglobin  (Taylor Available online 1992)
卷期: Volume 16, issue 1-2  

页码: 27-34

 

ISSN:0363-0269

 

年代: 1992

 

DOI:10.3109/03630269209005673

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

Hb City of Hope [β69(E13)GLY→SER] was detected by reversed phase high performance liquid chromatography in an asymptomatic carrier from Naples, Southern Italy. The amino acid substitution, identified by fast atom bombardment mass spectrometry, was due to a TGG→TGAsubstitution as assessed by DNA sequencing. Analysis of the chromosomal background indicates that the globin gene cluster containing the mutant gene has most probably been rearranged by a recombination event, since the mutation was associated with restriction fragment length polymorphism haplotype IX, instead of haplotype I, as previously reported.

 

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