Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
|
| pubmed:dateCreated |
1996-12-2
|
| pubmed:abstractText |
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder. It is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor, as a consequence of a substitution of adenine by guanine in exon 26 of the apolipoprotein B-100 gene, coding for the putative LDL receptor-binding domain of the mature protein. This disorder is associated with a strikingly high incidence of arteriosclerosis and tends to cause disease and premature death. In this communication we describe a rapid capillary gel electrophoretic method in combination with molecular biology techniques to facilitate the diagnosis of FDB. Mutation screening for FDB is performed by an allele-specific amplification followed by capillary gel electrophoresis (CGE). For the combined polymerase chain reaction (PCR)-CGE method, a total analysis time of only 3 h is needed, a period that is normally necessary for the run and for staining of the gel only, not including the time for PCR, gel casting, etc. In our pilot study 4 of 43 hypercholesterolemic patients were found to have the predominant apoB 3500 codon mutation. The verification is demonstrated by DNA-sequencing. This pilot study will be followed by a large cohort analysis of the south-west German population to determine the frequency of FDB in this area. The PCR-CGE method on the Dionex capillary electrophoresis system (CES I) allows rapid, fully automated detection of the mutation resulting in the unequivocal diagnosis of FDB.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0021-9673
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
13
|
| pubmed:volume |
744
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
187-94
|
| pubmed:dateRevised |
2009-1-15
|
| pubmed:meshHeading |
pubmed-meshheading:8843667-Adult,
pubmed-meshheading:8843667-Aged,
pubmed-meshheading:8843667-Apolipoproteins B,
pubmed-meshheading:8843667-Autoradiography,
pubmed-meshheading:8843667-Base Sequence,
pubmed-meshheading:8843667-Chemistry, Clinical,
pubmed-meshheading:8843667-Cohort Studies,
pubmed-meshheading:8843667-DNA,
pubmed-meshheading:8843667-DNA Primers,
pubmed-meshheading:8843667-Electrophoresis, Capillary,
pubmed-meshheading:8843667-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:8843667-Female,
pubmed-meshheading:8843667-Germany,
pubmed-meshheading:8843667-Humans,
pubmed-meshheading:8843667-Hyperlipidemia, Familial Combined,
pubmed-meshheading:8843667-Hyperlipoproteinemia Type II,
pubmed-meshheading:8843667-Male,
pubmed-meshheading:8843667-Middle Aged,
pubmed-meshheading:8843667-Pilot Projects,
pubmed-meshheading:8843667-Polymerase Chain Reaction,
pubmed-meshheading:8843667-Reproducibility of Results,
pubmed-meshheading:8843667-Sequence Analysis, DNA,
pubmed-meshheading:8843667-Silver Staining,
pubmed-meshheading:8843667-Time Factors
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Screening and identification of familial defective apolipoprotein B-100 in clinical samples by capillary gel electrophoresis.
|
| pubmed:affiliation |
Universität Tübingen, Innere Medizin Abteilung IV, Germany.
|
| pubmed:publicationType |
Journal Article,
Comparative Study
|