Linked Life Data

15627619

Source:http://linkedlifedata.com/resource/pubmed/id/15627619

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2005-1-3
pubmed:abstractText
Mannose-binding lectin (MBL) deficiency is associated with increased susceptibility to various infections and autoimmune disorders. It is caused by certain polymorphisms in the MBL2 gene promoter and mutations in the coding region of the gene. In this report, we present a novel, rapid, efficient and cost-effective method of two multiplex polymerase chain reactions (PCRs) for the assessment of three structural point mutations within exon 1 at codons 52, 54 and 57. Three additional PCR reactions for the detection of promoter polymorphisms at positions -550 and -221 were performed. MBL2 haplotypes in 359 individuals of the general Czech population were detected using this approach. The rare LYD haplotype was found in 1.1% of all alleles.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0022-1759
pubmed:author
pubmed:issnType
Print
pubmed:volume
295
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
139-47
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR.
pubmed:affiliation
Laboratory of Molecular Genetics, Centre for Cardiovascular Surgery and Transplantation, Výstavní 17/19, 603 00 Brno, Czech Republic.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't