Source:http://linkedlifedata.com/resource/pubmed/id/14514650
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
10
|
| pubmed:dateCreated |
2003-9-29
|
| pubmed:abstractText |
We report a genomewide linkage analysis of a large consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identification of a novel neonatal diabetes locus. Neonatal diabetes was characterized by low levels of circulating C-peptide with very low to undetectable levels of insulin in the presence of severe hyperglycemia unresponsive to insulin infusion. A dense genomewide linkage search of the family was undertaken using a first generation 10K single nucleotide polymorphism chip containing 10,044 markers. A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). There is a strong history of type 2 diabetes in carriers of the disease gene. It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene.
|
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0012-1797
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
52
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
2636-8
|
| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:14514650-Alleles,
pubmed-meshheading:14514650-Chromosome Mapping,
pubmed-meshheading:14514650-Chromosomes, Human, Pair 10,
pubmed-meshheading:14514650-Consanguinity,
pubmed-meshheading:14514650-Diabetes Mellitus,
pubmed-meshheading:14514650-Gene Frequency,
pubmed-meshheading:14514650-Genes, Recessive,
pubmed-meshheading:14514650-Genetic Linkage,
pubmed-meshheading:14514650-Genome, Human,
pubmed-meshheading:14514650-Genotype,
pubmed-meshheading:14514650-Haplotypes,
pubmed-meshheading:14514650-Heterozygote,
pubmed-meshheading:14514650-Humans,
pubmed-meshheading:14514650-Infant, Newborn,
pubmed-meshheading:14514650-Male,
pubmed-meshheading:14514650-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:14514650-Pedigree,
pubmed-meshheading:14514650-Polymorphism, Single Nucleotide
|
| pubmed:year |
2003
|
| pubmed:articleTitle |
A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.
|
| pubmed:affiliation |
Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|