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rdf:type |
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lifeskim:mentions |
umls-concept:C0002520,
umls-concept:C0003316,
umls-concept:C0003593,
umls-concept:C0003765,
umls-concept:C0017797,
umls-concept:C0332281,
umls-concept:C0441889,
umls-concept:C0587184,
umls-concept:C1555721,
umls-concept:C1705241,
umls-concept:C1705242,
umls-concept:C1706204,
umls-concept:C1706214,
umls-concept:C1882417
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pubmed:issue |
4
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pubmed:dateCreated |
1989-8-8
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pubmed:abstractText |
A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the Ag (h/i) immunochemical polymorphism. Linkage disequilibrium was found between this MspI polymorphic site and the apo B XbaI and EcoRI variable sites and the Ag (al/d) and (c/g) epitope pairs; there is apparent linkage equilibrium with the apo B PvuII variable site. Based on three population studies (samples from London. Finland and Italy), no significant association was found between this RFLP and serum cholesterol and apo B levels. These data suggest that the arginine 3611----glutamine 3611 substitution has no significant effect on apo B function.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0340-6717
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
82
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
322-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:2472350-Adult,
pubmed-meshheading:2472350-Apolipoproteins B,
pubmed-meshheading:2472350-Arginine,
pubmed-meshheading:2472350-Blotting, Southern,
pubmed-meshheading:2472350-Child,
pubmed-meshheading:2472350-Cholesterol,
pubmed-meshheading:2472350-Deoxyribonuclease HpaII,
pubmed-meshheading:2472350-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:2472350-Epitopes,
pubmed-meshheading:2472350-Exons,
pubmed-meshheading:2472350-Female,
pubmed-meshheading:2472350-Glutamine,
pubmed-meshheading:2472350-Humans,
pubmed-meshheading:2472350-Male,
pubmed-meshheading:2472350-Middle Aged,
pubmed-meshheading:2472350-Mutation,
pubmed-meshheading:2472350-Polymorphism, Genetic,
pubmed-meshheading:2472350-Polymorphism, Restriction Fragment Length
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pubmed:year |
1989
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pubmed:articleTitle |
Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.
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pubmed:affiliation |
Charing Cross Sunley Research Centre, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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