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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