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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
7
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pubmed:dateCreated |
1997-8-28
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pubmed:abstractText |
The Kidd blood group locus encodes a urea transporter which is expressed on human red cells and in the kidney. This gene is located on chromosome 18q12, and evidence for linkage and association with type 1 diabetes mellitus has been reported. To investigate this further, the genetic basis for the blood group Jk(a)/Jk(b) polymorphism was first determined by sequencing reverse-transcribed reticulocyte RNAs from Jk(a+b-) and Jk(a-b+) donors. The Jk(a)/Jk(b) polymorphism was caused by a transition (G838A), resulting in a Asp280Asn amino acid substitution and an MnlI restriction fragment length polymorphism (RFLP). Using the MnlI RFLP, we found that the Jk(a)/Jk(b) polymorphism was not in linkage disequilibrium with type 1 diabetes in 228 multiplex UK and US families tested.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0964-6906
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1017-20
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9215669-Adolescent,
pubmed-meshheading:9215669-Adult,
pubmed-meshheading:9215669-Alleles,
pubmed-meshheading:9215669-Cloning, Molecular,
pubmed-meshheading:9215669-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:9215669-Diabetes Mellitus, Type 1,
pubmed-meshheading:9215669-Genetic Linkage,
pubmed-meshheading:9215669-Genetic Predisposition to Disease,
pubmed-meshheading:9215669-Humans,
pubmed-meshheading:9215669-Kidd Blood-Group System,
pubmed-meshheading:9215669-Polymerase Chain Reaction,
pubmed-meshheading:9215669-Polymorphism, Genetic,
pubmed-meshheading:9215669-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:9215669-Sequence Analysis, DNA
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pubmed:year |
1997
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pubmed:articleTitle |
The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.
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pubmed:affiliation |
INSERM U76, GIP-INTS, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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