Abstract:
:The EPB3 gene encodes band 3 (anion exchanger 1) of the red cell membrane. A subset of hereditary spherocytosis (HS) is associated with EPB3 gene mutations and band 3 deficiency. We report a large Italian family in which 10 of the 27 members investigated displayed an autosomal dominant HS. SDS-PAGE revealed a reduction in band 3 in the patients. Screening of the Pst I polymorphic site confirmed the linkage of HS with the EPB3 gene. Analysis of complementary and genomic DNA showed a large additional segment. Nucleotide sequencing disclosed an in-frame duplication of 69 nucleotides (nt) including a triplet of intronic origin and a genuine exonic duplication of 66 nt. Two CCTGC sequences occurred close to one another, one near the intron 12 acceptor splice site (nt -7 to -3), and the other within exon 13 (nt 1494-1498). We assumed that the abnormal allele arose from an unequal recombination event of the anti-Lepore type between the two CCTGC sequences. At the level of the mutated protein, termed band 3 Milano, the additional segment (Gln plus duplication of residues 478-499) corresponded to the last part of the third transmembrane domain (TM3), the entire second outer loop and part of TM4 as it is currently defined in hydropathy analysis. After deglycosylation of band 3, only the normal band was detected, supporting the view that band 3 Milano is probably not incorporated into the membrane.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Bianchi P,Zanella A,Alloisio N,Barosi G,Bredi E,Pelissero G,Zappa M,Vercellati C,Baronciani L,Delaunay J,Sirchia Gdoi
10.1046/j.1365-2141.1997.1983013.xsubject
Has Abstractpub_date
1997-08-01 00:00:00pages
283-8issue
2eissn
0007-1048issn
1365-2141journal_volume
98pub_type
杂志文章abstract::Human intravenous immunoglobulin (IVIg) and anti-D immunoglobulin preparations are used in the treatment of immune thrombocytopenic purpura (ITP). One mechanism proposed to explain their therapeutic effects in ITP patients is the induction of expression of anti-inflammatory cytokines, such as interleukin (IL)-10 or IL...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2007.06495.x
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abstract::The clinical significance of Aspergillus fungaemia in the setting of a deep-seated aspergillosis has not been clearly established. Among 107 microbiologically documented Aspergillus infections in patients with haematological diseases observed over a 17-year period, blood cultures grew Aspergillus species from 10 cases...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::The feasibility of marrow cryopreservation for autologous bone marrow transplantation after 7 d in liquid culture was assessed in 10 leukaemic patients. A median of 0.17 x 10(8) nucleated cells/kg and 0.4 x 10(4) CFU-GM/kg could be collected after the complete procedure, with overall a consistent cell loss. Long-term ...
journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究,随机对照试验
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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pub_type: 杂志文章,评审
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2003-10-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1989.tb07750.x
更新日期:1989-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:2009-12-01 00:00:00