| Title: |
Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians |
| Authors: |
Simard, Jacques; Labrie, Fernand; Moorjani, Sital; Lupien, Paul-J.; Torres, Ana Lucia; Vohl, Marie-Claude; Gagné, Claude; Després, Jean-Pierre; Couture, Patrick |
| Publisher Information: |
Wiley-Liss 2020-06-30T17:55:17Z 9999-12-31 1995-03-01 |
| Document Type: |
Electronic Resource |
| Abstract: |
Familial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six well-characterized mutations are known to cause FH in French Canadians. High prevalence of the phenotype, along with a limited number of mutations in this population, provides a unique opportunity to study genotype-phenotype variation. Since the current methods for detection of point mutations in this population use complicated approaches, we report polymerase chain reaction (PCR)-based restriction fragment analysis to detect all four point mutations. This approach provides a rapid diagnosis and is suitable to screen large number of samples for studies in genetic epidemiology; it should be useful in identifying FH in other populations bearing the same mutations. |
| Index Terms: |
Familial hypercholesterolemia; Genetic epidemiology; Lowdensity lipoprotein receptor gene; Molecular diagnosis; Hypercholestérolémie familiale -- Diagnostic moléculaire; Lipoprotéines de basse densité; Épidémiologie génétique; Polymorphismes de longueur des fragments de restriction; Canadiens français; Récepteurs cellulaires; Gènes; article de recherche; COAR1_1::Texte::Périodique::Revue::Contribution à un journal::Article::Article de recherche |
| URL: |
http://hdl.handle.net/20.500.11794/39652 |
| Availability: |
Open access content. Open access content; http://purl.org/coar/access_right/c_16ec |
| Note: |
application/pdf; English |
| Other Numbers: |
LVB oai:corpus.ulaval.ca:20.500.11794/39652; 10.1002/humu.1380060307; 1059-7794; 8535443; 1369989438 |
| Contributing Source: |
UNIVERSITE LAVAL; From OAIster®, provided by the OCLC Cooperative. |
| Accession Number: |
edsoai.on1369989438 |
| Database: |
OAIster |