Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians.
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.
Vohl
M C
MC
Lipid Research Center, CHUL Research Center, Quebec, Canada.
Couture
P
P
Moorjani
S
S
Torres
A L
AL
Gagné
C
C
Després
J P
JP
Lupien
P J
PJ
Labrie
F
F
Simard
J
J
D001483:Base Sequence; D002170:Canada / Q000208:ethnology; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL