Deletions of the low density lipoprotein receptor gene underlying familial hypercholesterolaemia: screening by polymerase chain reaction using pooled DNA and blood samples
| Autor: | Alpo Vuorio, Hannu Turtola, Kimmo Kontula, Lars Paulin |
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| Rok vydání: | 1997 |
| Předmět: |
Heterozygote
DNA Mutational Analysis 030204 cardiovascular system & hematology Biology Polymerase Chain Reaction law.invention Hyperlipoproteinemia Type II 03 medical and health sciences Exon chemistry.chemical_compound 0302 clinical medicine law Humans Mass Screening Nucleotide Molecular Biology Gene Heteroduplex formation Polymerase chain reaction Alleles 030304 developmental biology chemistry.chemical_classification Genetics Gel electrophoresis 0303 health sciences Cell Biology DNA Exons Molecular biology 3. Good health chemistry Receptors LDL Low-density lipoprotein Feasibility Studies Electrophoresis Polyacrylamide Gel Gene Deletion |
| Zdroj: | Molecular and cellular probes. 11(1) |
| ISSN: | 0890-8508 |
| Popis: | We evaluated the feasibility of methods based on the polymerase chain reaction (PCR) and non-automated or automated gel electrophoresis to detect clinically important DNA deletions in pooled DNA and blood samples. Two common low density lipoprotein (LDL) receptor mutations causing familial hypercholesterolaemia (FH) in the Finnish population were easily identified in pools corresponding to 20 individuals. One of these mutations (FH-North Karelia) deletes seven nucleotides from exon 6 of the LDL receptor gene. PCR amplification of DNA samples from the heterozygous patients with the FH-North Karelia gene results in the formation of DNA heteroduplexes, which markedly improves mutation detection. These studies show the applicability of semi-automated PCR techniques in the screening of DNA deletions and demonstrate the clinical diagnostic usefulness of heteroduplex formation. |
| Databáze: | OpenAIRE |
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