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Rapid restriction fragment analysis for screening four point mutations of the Low‐density lipoprotein receptor gene in French Canadians
Author(s) -
Vohl MarieClaude,
Couture Patrick,
Moorjani Sital,
Torres Ana L.,
Gagné Claude,
Després JeanPierre,
Lupien Paul J.,
Labrie Fernand,
Simard Jacques
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380060307
Subject(s) - biology , point mutation , genetics , ldl receptor , restriction fragment length polymorphism , gene , fragment (logic) , microbiology and biotechnology , mutation , lipoprotein , polymerase chain reaction , cholesterol , biochemistry , computer science , programming language
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. © 1995 Wiley‐Liss, Inc.